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
PDE12	201626	broad.mit.edu	37	3	57542439	57542439	+	Silent	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:57542439G>T	uc003diw.4	+	0	459	c.333G>T	c.(331-333)ccG>ccT	p.P111P	PDE12_uc003div.3_Silent_p.P111P	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	111							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GTTCAGGGCCGGGGCCTGAGC	0.652000													3	37					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231174736	231174736	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:231174736C>A	uc002vql.3	+	22	2271	c.2156C>A	c.(2155-2157)cCg>cAg	p.P719Q	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.P605Q|SP140_uc002vqm.3_Missense_Mutation_p.P659Q|SP140_uc010fxl.3_Missense_Mutation_p.P692Q	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	719					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTCACATCCCGCCTGTGGAA	0.547000													4	96					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228997	118228997	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:118228997C>A	uc003pxx.4	+	0	309	c.108C>A	c.(106-108)ggC>ggA	p.G36G		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	36					transport	integral to membrane		p.G36G(2)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCAGCGGCGGCGGCGGGAGCC	0.761000													3	27					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418827	122418827	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:122418827G>A	uc003efq.4	+	5	1485	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S	PARP14_uc021xdc.1_Missense_Mutation_p.G340S|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.G193S|PARP14_uc003efs.1_Missense_Mutation_p.G193S	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.G313S(1)|p.G476S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATTTCTCCAGGCAGGTATTT	0.398000													10	58					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46493409	46493409	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:46493409A>T	uc001cov.3	+	16	2209	c.1926A>T	c.(1924-1926)ctA>ctT	p.L642L	MAST2_uc001cow.3_Silent_p.L642L|MAST2_uc001coy.1_Silent_p.L316L|MAST2_uc001coz.1_Silent_p.L527L|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	642	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.L642L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCCTCCTAATTACATCCA	0.423000													29	69					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039642	166039642	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:166039642G>A	uc021pef.1	-	1	1095	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	208								p.R208W(4)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCCGGGCCCGCTGCCCCAAG	0.582000													24	62					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563125	129563125	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:129563125A>G	uc009zyl.1	-	7	2397	c.2069T>C	c.(2068-2070)aTc>aCc	p.I690T	TMEM132D_uc001uia.2_Missense_Mutation_p.I228T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	690						integral to membrane		p.I690T(2)|p.I690I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGCAAAGATGGCCCTGTT	0.577000													5	109					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927567	35927567	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:35927567C>A	uc003olm.3	-	14	1766	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.G134V|SLC26A8_uc003oll.3_Missense_Mutation_p.G447V|SLC26A8_uc003oln.3_Missense_Mutation_p.G552V	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	552	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATTTTCACCCCAGGAATGGT	0.383000													6	112					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	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													3	6					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48254189	48254189	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:48254189C>A	uc002phm.2	+	3	447	c.423C>A	c.(421-423)aaC>aaA	p.N141K	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	141						nucleolus		p.N141K(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AGGTCCCCAACGCCAAGAAGC	0.706000													3	5					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46671807	46671807	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:46671807G>T	uc001nda.3	+	5	1026	c.398G>T	c.(397-399)aGg>aTg	p.R133M	ATG13_uc009yld.3_Missense_Mutation_p.R133M|ATG13_uc001ndb.3_Missense_Mutation_p.R133M|ATG13_uc001ncz.3_Missense_Mutation_p.R133M|ATG13_uc001ndc.3_Missense_Mutation_p.R133M|ATG13_uc010rgv.2_Missense_Mutation_p.R54M	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	133					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCTATAACTAGGGTGACACCA	0.428000													6	78					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:26271452C>T	uc003nhi.3	-	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	54					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.R54H(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTCTGATAGCGGCGAATCTC	0.607000													7	105					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr20:29625885A>T	uc010ztl.1	+	1	71	c.39A>T	c.(37-39)aaA>aaT	p.K13N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.K43N(2)|p.V12V(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													6	113					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134145147	134145147	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:134145147G>A	uc010quu.1	-	0	210	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_Intron|LRRC27_uc001llf.2_5'Flank|LRRC27_uc010quv.1_5'Flank|LRRC27_uc010quw.1_5'Flank|LRRC27_uc001llg.2_5'Flank|LRRC27_uc001lli.2_5'Flank	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	0							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.L32F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCGCTCCAAAGGTGGTGCCTC	0.682000													21	41					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17087591	17087591	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:17087591C>T	uc010ock.2	-	1	74	c.74G>A	c.(73-75)cGc>cAc	p.R25H	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.R25H(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CGATGGCGAGCGCTGCCCTGC	0.577000													7	46					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227920349	227920349	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:227920349T>G	uc001hrb.3	-	5	1136	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|SNAP47_uc001hqx.4_Non-coding_Transcript|SNAP47_uc001hqy.4_Non-coding_Transcript|JMJD4_uc001hrc.3_Missense_Mutation_p.N363T	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	379								p.N379T(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCTTCAAAGTTGATGCCCGA	0.572000													8	36					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24104205	24104205	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:24104205G>A	uc002dmd.3	+	5	820	c.623G>A	c.(622-624)aGc>aAc	p.S208N	PRKCB_uc002dme.3_Missense_Mutation_p.S208N	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	208	C2.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.S208N(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAAAGTGAGAGCAAACAGAAG	0.443000													9	104					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794843	30794843	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:30794843C>A	uc002dzs.1	-	2	1014	c.806G>T	c.(805-807)cGg>cTg	p.R269L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTAGAAAGCCCGGCGGCACTC	0.637000													4	42					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7680786	7680786	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:7680786C>G	uc002giu.1	+	31	5095	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1694	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1694*(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAAGTATTCAGAAGCCATC	0.507000													30	378					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345420	38345420	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:38345420A>T	uc010qev.2	+	3	2490	c.2386A>T	c.(2386-2388)Agc>Tgc	p.S796C	ZNF33A_uc001izg.3_Missense_Mutation_p.S790C|ZNF33A_uc001izh.3_Missense_Mutation_p.S789C|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.S790C	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	789						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S789C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCACAAGTCAGCCTCCATAA	0.378000													16	59					0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207133044	207133044	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:207133044T>C	uc001hfa.4	-	6	2053	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	FCAMR_uc001hfb.3_Missense_Mutation_p.S251G|FCAMR_uc009xca.2_Missense_Mutation_p.S251G	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	473						integral to membrane|plasma membrane	receptor activity	p.S251G(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTCCAGAGCTTCCTTTGCAA	0.527000													37	151					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:88514920T>C	uc001tar.3	-	13	1557	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	CEP290_uc001tat.3_Missense_Mutation_p.T167A|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	405					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.T405A(3)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATATGAGTCTGTTGAGAA	0.383000													3	43					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38855747	38855747	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:38855747C>A	uc002hvd.3	-	5	1367	c.1310G>T	c.(1309-1311)cGc>cTc	p.R437L		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	437	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.R437L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CACCTCCAGGCGTGTCTTGAT	0.502000													30	158					0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554114	150554114	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:150554114G>A	uc003why.1	+	2	4774	c.556G>A	c.(556-558)Gat>Aat	p.D186N	ABP1_uc003whz.1_Missense_Mutation_p.D186N|ABP1_uc003wia.1_Missense_Mutation_p.D186N	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	186					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	p.D186N(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GGCCTTCACCGATGTGGCCCC	0.587000													9	78					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002395	3002395	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chrX:3002395G>T	uc022brz.1	+	5	654	c.518G>T	c.(517-519)tGc>tTc	p.C173F	ARSF_uc004cre.2_Missense_Mutation_p.C173F|ARSF_uc004crf.2_Missense_Mutation_p.C173F	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	173						extracellular region	arylsulfatase activity|metal ion binding	p.C173F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GTTGACAGCTGCTGGCCGGAC	0.527000													6	50					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29839575	29839575	+	Silent	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:29839575G>T	uc001iut.1	-	5	1531	c.778C>A	c.(778-780)Cgg>Agg	p.R260R	SVIL_uc001iuu.1_Silent_p.R260R|SVIL_uc009xld.1_Silent_p.R260R	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	260					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAGGGGCTCCGGGAGGCTGCC	0.612000													4	33					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237124	43237124	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:43237124G>A	uc002oue.3	-	2	653	c.521C>T	c.(520-522)cCg>cTg	p.P174L	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	174	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.P174L(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTTGCGTCCGGAGTCTCAGG	0.522000													12	277					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:110249346C>G	uc004bdh.3	-	2	1923	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	KLF4_uc004bdf.2_Missense_Mutation_p.K359N|KLF4_uc022blk.1_Missense_Mutation_p.K75N|KLF4_uc004bdg.3_Missense_Mutation_p.K409N	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	443					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592000													12	192					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572757	38572757	+	Silent	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:38572757G>T	uc002ohk.3	+	2	1061	c.552G>T	c.(550-552)gcG>gcT	p.A184A		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	184					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAGGACGCGGGGGAGCCGC	0.741000													4	45					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83332552	83332552	+	Splice_Site	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:83332552C>A	uc010uoi.2	-	20	2613	c.2436_splice	c.e20+1	p.T812_splice	AP3B2_uc010uoh.2_Splice_Site_p.T793_splice|AP3B2_uc010uoj.2_Splice_Site_p.T761_splice|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Splice_Site_p.T429_splice|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	793					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity	p.?(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AAGGCTCTCACTGTTTTCCTG	0.587000													3	36					0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135743788	135743788	+	Missense_Mutation	SNP	C	C	A	rs140658941	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:135743788C>A	uc002tue.1	-	6	2685	c.2654G>T	c.(2653-2655)cGa>cTa	p.R885L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R772L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.R613L|YSK4_uc002tui.4_Missense_Mutation_p.R902L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	885							ATP binding|protein serine/threonine kinase activity	p.R885Q(1)|p.R237L(1)|p.R885L(1)|p.R237Q(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTTAAAATTCGGCTGGCATT	0.378000													11	66					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149826610	149826610	+	Silent	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:149826610T>C	uc003qmo.2	-	12	1555	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K		NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 4 (PPIL4), mRNA.	486					protein folding	nucleus	RNA binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity	p.K486K(2)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TAGATTTTTCTTTATCTTTGG	0.338000													14	95					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793645	114793645	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:114793645G>A	uc001tvo.3	-	8	1744	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	TBX5_uc001tvp.3_Missense_Mutation_p.P417S|TBX5_uc001tvq.3_Missense_Mutation_p.P367S	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	417					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P417S(2)|p.Q416L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGTCCATGGGCTGCACGGTG	0.657000													11	46					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171250000	171250000	+	Missense_Mutation	SNP	T	T	C	rs148980563	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:171250000T>C	uc009wvz.3	+	5	839	c.703T>C	c.(703-705)Ttc>Ctc	p.F235L	FMO1_uc010pme.2_Missense_Mutation_p.F172L|FMO1_uc001ghl.3_Missense_Mutation_p.F235L|FMO1_uc001ghm.3_Missense_Mutation_p.F235L	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	235					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.F235L(2)|p.V234A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGACATGGTGTTCATGACACG	0.493000													18	61					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1051731	1051731	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:1051731C>T	uc003zha.3	+	1	318	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	DMRT2_uc003zhb.4_Missense_Mutation_p.P40S|DMRT2_uc003zgy.4_Intron|DMRT2_uc011llt.2_Missense_Mutation_p.P40S|DMRT2_uc022bcw.1_Missense_Mutation_p.P40S|DMRT2_uc011llv.2_Missense_Mutation_p.P40S	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	40					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.P40S(3)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		gcccagcccgccgccggcgga	0.746000													3	7					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67252297	67252297	+	Splice_Site	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67252297C>T	uc002jif.2	-	28	5076	c.3858_splice	c.e28+1	p.E1286_splice	ABCA5_uc002jib.2_Splice_Site_p.E252_splice|ABCA5_uc002jic.2_Splice_Site_p.E509_splice|ABCA5_uc002jid.2_Splice_Site_p.E203_splice|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.E1286_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1286					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GAATAAATTACCTCCTCACAA	0.353000													7	134					0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:75631620T>C	uc002azy.3	+	5	374	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Missense_Mutation_p.C89R|COMMD4_uc002baa.3_Missense_Mutation_p.L106P|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	106						cytoplasm	protein binding	p.L106P(6)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622000													3	45					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65301865A>C	uc001dbu.1	-	22	3423	c.3174T>G	c.(3172-3174)ttT>ttG	p.F1058L	JAK1_uc009wam.1_Missense_Mutation_p.F1058L|JAK1_uc009wal.1_Missense_Mutation_p.F235L	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1058	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.F1058L(2)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGGCAATATAAAATTTAGATT	0.423000			Mis		ALL								3	35					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117165125	117165125	+	Missense_Mutation	SNP	C	C	A	rs138731082		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:117165125C>A	uc004biy.4	-	11	2124	c.1484G>T	c.(1483-1485)cGg>cTg	p.R495L	DFNB31_uc004bix.3_Missense_Mutation_p.R527L|DFNB31_uc004biz.4_Missense_Mutation_p.R878L|DFNB31_uc004bja.4_Missense_Mutation_p.R877L	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	878					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCGGCCTCCCGGTGCTCCTT	0.582000													3	48					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042673	90042673	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:90042673C>T	uc003ukp.3	+	4	1319	c.683C>T	c.(682-684)tCt>tTt	p.S228F	CLDN12_uc003ukq.3_Missense_Mutation_p.S228F|CLDN12_uc010leq.3_Missense_Mutation_p.S228F|CLDN12_uc003uks.3_Missense_Mutation_p.S228F|CLDN12_uc003ukr.3_Missense_Mutation_p.S228F|CLDN12_uc022ahd.1_Missense_Mutation_p.S228F	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	228					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.S228F(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TCAGCACGCTCTCGCCTCTCT	0.423000													40	145					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779638	111779638	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:111779638C>A	uc001tsa.2	+	20	3594	c.3440C>A	c.(3439-3441)cCg>cAg	p.P1147Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGTGAGTCCCCGGCCACCCGC	0.667000													4	83					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1720116	1720116	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chrX:1720116C>A	uc004cqa.3	+	4	1913	c.1717C>A	c.(1717-1719)Cgg>Agg	p.R573R	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.	573					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						AAAGGACACCCGGTCAGAACA	0.667000													3	48					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993895	45993895	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr21:45993895C>T	uc002zfk.1	+	0	290	c.260C>T	c.(259-261)cCc>cTc	p.P87L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	87	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.P87L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCACGCCCTCGTGCTGC	0.682000													16	85					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:109639448T>A	uc001tob.3	+	18	2974	c.2855T>A	c.(2854-2856)cTg>cAg	p.L952Q	ACACB_uc001toc.3_Missense_Mutation_p.L952Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	952	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.L952Q(2)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGTGCCGTGCTGGAAGCAGGC	0.552000													7	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179537132	179537132	+	Splice_Site	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:179537132A>G	uc021vsy.1	-	149	31252	c.31027_splice	c.e149+1	p.G10343_splice	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.G7004_splice|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11270	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAAAATACCTTTAGCTG	0.328000													10	264					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179322	87179322	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:87179322G>A	uc003uiz.2	-	13	1892	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	ABCB1_uc011khc.2_Missense_Mutation_p.R403W	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	467	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R467W(8)|p.R467L(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATGATTTCCCGTAGAAACCTT	0.408000													9	121					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85459457	85459457	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:85459457A>T	uc010rth.2	-	1	500	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_uc010rtg.2_Silent_p.P37P|SYTL2_uc010rti.2_Silent_p.P37P|SYTL2_uc010rtj.2_5'UTR|SYTL2_uc001pbf.4_Silent_p.P37P	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	37	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.P37P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAATTTTTTCAGGCAAATGTC	0.393000													5	78					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16594036	16594036	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:16594036G>T	uc002gqk.1	+	0	398	c.322G>T	c.(322-324)Gac>Tac	p.D108Y		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	108								p.D108Y(1)									CACTGGCGTGGACAAGAGGGA	0.657000													27	245					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15727591	15727591	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:15727591G>C	uc003caj.1	-	19	2140	c.1997C>G	c.(1996-1998)aCa>aGa	p.T666R	ANKRD28_uc003cai.1_Missense_Mutation_p.T512R|ANKRD28_uc011avz.1_Missense_Mutation_p.T512R|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Missense_Mutation_p.T696R|ANKRD28_uc003cam.2_Missense_Mutation_p.T699R	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	666						nucleoplasm	protein binding	p.T133R(1)|p.T699R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACACAGTCTGTGTGCCCGTT	0.458000													4	22					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	497413	497413	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:497413C>T	uc003mtd.3	-	24	2647	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	EXOC2_uc003mte.3_Missense_Mutation_p.R838Q|EXOC2_uc011dho.2_Missense_Mutation_p.R433Q	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	838					exocytosis|protein transport			p.R838Q(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGCATCAGTCGACTGAGCTC	0.388000													22	90					0	0	1	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789207	55789207	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:55789207T>C	uc002qkd.3	-	3	552	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	HSPBP1_uc002qjx.3_Missense_Mutation_p.Q119R|HSPBP1_uc002qkc.3_Missense_Mutation_p.Q73R	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	76					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	p.Q73R(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGCAGCCACTGACGCCTCTG	0.577000													7	21					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014376	247014376	+	Silent	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:247014376G>C	uc001ibv.2	-	32	5056	c.4959C>G	c.(4957-4959)gcC>gcG	p.A1653A	AHCTF1_uc009xgs.1_Silent_p.A505A|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1644	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.A1644A(1)|p.A1653A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACTAGTTACGGCAGATGGCA	0.363000													7	164					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872565	43872565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:43872565C>A	uc001uza.4	-	11	1663	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	ENOX1_uc001uzc.4_Nonsense_Mutation_p.E455*|ENOX1_uc001uzb.4_Nonsense_Mutation_p.E455*	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	455					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.E455*(3)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AAAAGCTGTTCTTTTTCTTGT	0.527000													38	103					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:18151872G>C	uc002gsr.1	-	17	2233	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	FLII_uc002gsq.1_Missense_Mutation_p.L599V|FLII_uc010vxn.1_Missense_Mutation_p.L697V|FLII_uc010vxo.1_Missense_Mutation_p.L673V|FLII_uc002gss.1_Missense_Mutation_p.L727V	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	728	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	p.L728V(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACCTTGTACAGCTTGGGCTGC	0.622000											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	61					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120106124	120106124	+	Silent	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:120106124G>T	uc009zwu.3	+	1	178	c.75G>T	c.(73-75)tcG>tcT	p.S25S	PRKAB1_uc001txg.3_Silent_p.S25S	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	25					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.T28fs*39(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	GGGACAGCTCGGGGGGCACCA	0.662000													3	32					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44520659	44520659	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr20:44520659C>A	uc002xqh.3	+	2	727	c.353C>A	c.(352-354)cCc>cAc	p.P118H	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_Missense_Mutation_p.P100H|CTSA_uc010zxi.2_Missense_Mutation_p.P118H|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	100					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GAGCATGGCCCCTTCCTGGTG	0.562000											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	47					0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139581703	139581703	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:139581703A>T	uc004cii.1	-	0	209	c.107T>A	c.(106-108)cTg>cAg	p.L36Q	AGPAT2_uc004cij.1_Missense_Mutation_p.L36Q	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	36					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.L36Q(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGTGAAGCACAGCGCGCAGTA	0.726000													5	34					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107216263	107216263	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:107216263C>G	uc010ilv.2	-	2	619	c.254G>C	c.(253-255)aGg>aCg	p.R85T	TBCK_uc003hye.2_Missense_Mutation_p.R85T|TBCK_uc003hyc.2_Missense_Mutation_p.R85T|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.R85T	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	85	Protein kinase.					intracellular	Rab GTPase activator activity	p.R85T(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACAGGTTTCCTTTCTCGAAG	0.378000													36	137					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134113	233134113	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:233134113G>T	uc001hvl.2	-	31	5910	c.5675C>A	c.(5674-5676)cCg>cAg	p.P1892Q	PCNXL2_uc001hvk.1_Missense_Mutation_p.P544Q|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1892						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCTGTCGTCGGGGCCCCTCC	0.612000													4	60					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69758171	69758171	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:69758171C>T	uc010kak.3	+	12	2478	c.2202C>T	c.(2200-2202)aaC>aaT	p.N734N	BAI3_uc003pev.4_Silent_p.N734N	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	734					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N734N(3)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCAAGAAACTCAGAAGATA	0.383000													9	52					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111664180	111664180	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:111664180C>A	uc010hqa.3	+	8	2874	c.2463C>A	c.(2461-2463)ccC>ccA	p.P821P	PHLDB2_uc003dyc.3_Silent_p.P805P|PHLDB2_uc003dyd.3_Silent_p.P778P|PHLDB2_uc003dyg.3_Silent_p.P821P|PHLDB2_uc003dyh.3_Silent_p.P778P|PHLDB2_uc003dyi.3_Silent_p.P407P	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	821						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGGGTTTCCCGTTAACCCCA	0.358000													6	109					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118715997	118715997	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:118715997G>C	uc002tlj.3	-	11	1117	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	CCDC93_uc010fld.2_Missense_Mutation_p.R373G	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	317								p.R317G(4)|p.R316R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398000													14	42					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868429	97868429	+	Frame_Shift_Del	DEL	C	-	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:97868429delC	uc003dsg.1	+	0	200	c.200delC	c.(199-201)gctfs	p.A67fs		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGAATTTAGCTTTTGTGGAT	0.398													10	296	---	---	---	---					
MTUS1	57509	broad.mit.edu	37	8	17613213	17613215	+	In_Frame_Del	DEL	GGT	-	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:17613213_17613215delGGT	uc003wxv.3	-	1	576_578	c.102_104delACC	c.(100-105)ccacct>cct	p.34_35PP>P	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_In_Frame_Del_p.34_35PP>P|MTUS1_uc010lsz.3_In_Frame_Del_p.34_35PP>P	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	34						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTGTGTAGGTGGTGATTTCG	0.399													10	158	---	---	---	---					
NANOS1	340719	broad.mit.edu	37	10	120789635	120789637	+	In_Frame_Del	DEL	GAC	-	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:120789635_120789637delGAC	uc009xzf.1	+	0	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461	NP_955631	Q8WY41	NANO1_HUMAN	Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.	112					epithelial cell migration	perinuclear region of cytoplasm	RNA binding|protein binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788													2	4	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93720048	93720048	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr14:93720048delT	uc001ybo.3	-	6	2023	c.1697delA	c.(1696-1698)aatfs	p.N566fs	BTBD7_uc010aur.3_Frame_Shift_Del_p.N91fs|BTBD7_uc010two.2_Frame_Shift_Del_p.N386fs|BTBD7_uc001ybp.3_Frame_Shift_Del_p.N215fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	566										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GATGCCAGCATTTTTTTGCCG	0.388													7	193	---	---	---	---					
HEXIM1	10614	broad.mit.edu	37	17	43227525	43227526	+	In_Frame_Ins	INS	-	GGAGCT	GGAGCT			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:43227525_43227526insGGAGCT	uc002iig.3	+	0	2842_2843	c.968_969insGGAGCT	c.(967-969)cgg>cgGGAGCTg	p.329_330insEL		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	329	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGC	0.668													17	114	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45567373	45567375	+	In_Frame_Del	DEL	GAG	-	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:45567373_45567375delGAG	uc002pak.3	+	11	1107_1109	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E338del	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_In_Frame_Del_p.E276del|CLASRP_uc002pam.3_In_Frame_Del_p.E338del|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	338					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGGCAGCGATGAGGAGGCAGCCG	0.704													7	35	---	---	---	---					
