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
GATA4	2626	broad.mit.edu	37	8	11606556	11606556	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:11606556G>A	uc011kxc.1	+	1	1205	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	GATA4_uc003wub.1_Missense_Mutation_p.G43S|GATA4_uc003wuc.2_Missense_Mutation_p.G249S	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	249					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGATGAACGGCATCAACCG	0.637000													11	69					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128202816	128202816	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:128202816C>T	uc003ekm.3	-	4	1339	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GATA2_uc003ekn.3_Missense_Mutation_p.A302T|GATA2_uc003eko.2_Missense_Mutation_p.A302T	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	302					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A302S(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGGTGGCTGTGGCCCCA	0.642000			Mis		AML(CML blast transformation)								5	88					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:41790659T>G	uc010lxb.3	-	17	5623	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_uc010lxc.3_Silent_p.P1693P|KAT6A_uc003xon.4_Silent_p.P1693P	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													7	15					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160122126	160122126	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:160122126A>C	uc003fdh.3	+	4	634	c.521A>C	c.(520-522)gAt>gCt	p.D174A	IFT80_uc003fda.3_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.D174A|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.D149A|SMC4_uc003fdj.3_Missense_Mutation_p.D174A|SMC4_uc010hwd.3_Missense_Mutation_p.D174A|MIR15B_uc011boz.1_5'Flank|MIR16-2_uc003fdk.3_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	174					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGGGGATGATTATGAAGTC	0.338000													6	17					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028269	21028269	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:21028269T>C	uc010sil.2	+	6	893	c.828T>C	c.(826-828)ttT>ttC	p.F276F	SLCO1B3_uc001rek.3_Silent_p.F276F|SLCO1B3_uc001rel.3_Silent_p.F276F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	276					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCATACCATTTTTTTTCTTGC	0.358000													32	65					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449981	105449981	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:105449981T>C	uc022cca.1	+	0	556	c.556T>C	c.(556-558)Tca>Cca	p.S186P	MUM1L1_uc004emg.2_Missense_Mutation_p.S186P|MUM1L1_uc004emf.2_Missense_Mutation_p.S186P	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	186										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAACAAAGTCATTACAAAA	0.383000													11	13					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5708718	5708718	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:5708718G>A	uc001qnm.2	-	20	2237	c.2165C>T	c.(2164-2166)cCa>cTa	p.P722L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	727						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACTGCTCTGGATGTTTCGA	0.473000													21	115					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64441776	64441776	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:64441776G>A	uc003ttr.2	-	2	1308	c.23C>T	c.(22-24)gCt>gTt	p.A8V		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAATGTTTAGCTACCATCTC	0.423000													18	106					0	0	1	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													7	23					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949900	70949900	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:70949900G>A	uc001swb.4	-	16	4119	c.4089C>T	c.(4087-4089)tgC>tgT	p.C1363C	PTPRB_uc010sto.2_Silent_p.C1273C|PTPRB_uc010stp.2_Silent_p.C1273C|PTPRB_uc001swc.4_Silent_p.C1581C|PTPRB_uc001swa.4_Silent_p.C1493C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1363	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGAGGCCGGCAATGCAGGT	0.458000													8	25					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100615678	100615678	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:100615678C>T	uc010nno.2	-	7	989	c.756G>A	c.(754-756)aaG>aaA	p.K252K	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Silent_p.K218K|BTK_uc010nnn.2_Silent_p.K218K|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.3_Silent_p.K218K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	218	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGGCCACAACCTTTTTCAGCT	0.448000									Agammaglobulinemia, X-linked				17	102					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42264576	42264576	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:42264576C>G	uc002xkw.3	+	10	1056	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Missense_Mutation_p.Q312E	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	312						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	p.E311K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTCACGAGCAGCTAAATGT	0.488000													9	53					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918731	112918731	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr9:112918731A>G	uc004bej.4	+	8	3320	c.3128A>G	c.(3127-3129)tAt>tGt	p.Y1043C	PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.Y1043C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.Y901C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.Y901C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.Y812C|PALM2-AKAP2_uc004ben.3_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	Homo sapiens PALM2-AKAP2 readthrough (PALM2-AKAP2), transcript variant 1, mRNA.	812							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATGGAAGACTATGAGACACAC	0.537000													13	70					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673186	39673186	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:39673186G>A	uc002hwy.3	-	2	803	c.612C>T	c.(610-612)ggC>ggT	p.G204G	KRT15_uc002hwz.3_Silent_p.G106G|KRT15_uc002hxa.3_Silent_p.G39G|KRT15_uc002hxb.1_Silent_p.G39G	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	204	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGCCTCAACGCCCTGGCGCA	0.612000													20	109					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:29625892T>C	uc010ztl.1	+	1	78	c.46T>C	c.(46-48)Tat>Cat	p.Y16H	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.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													5	83					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31638330	31638330	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:31638330G>A	uc011axe.2	+	3	752	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	STT3B_uc003cer.1_Missense_Mutation_p.C251Y|STT3B_uc010hft.1_Missense_Mutation_p.C251Y	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	251					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGACAATGTGCTGCTGCTTA	0.318000													5	62					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								19	42					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377724	19377724	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:19377724C>T	uc010tkp.2	+	0	131	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTCTTCTCACTCTTTACT	0.413000													10	110					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	651708	651708	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:651708G>C	uc010drs.3	-	3	458	c.346C>G	c.(346-348)Cat>Gat	p.H116D		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	116							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACGGATGGTCTCTCTCC	0.721000													14	22					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21216300	21216300	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:21216300T>C	uc002npj.3	+	2	316	c.135T>C	c.(133-135)tcT>tcC	p.S45S	ZNF430_uc002npk.3_Silent_p.S45S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAGAATTTTCTCTGGAGGAGT	0.438000													21	105					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7362771	7362771	+	Silent	SNP	C	C	T	rs148914171	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:7362771C>T	uc009zfu.2	+	16	2452	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	PEX5_uc001qsw.3_Silent_p.D624D|PEX5_uc010sgc.2_Silent_p.D639D|PEX5_uc001qsu.3_Silent_p.D587D|PEX5_uc010sgd.2_Silent_p.D645D|PEX5_uc001qsv.3_Silent_p.D616D	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	624					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGCAGCCGACGCGCGGGATC	0.627000													15	104					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:7577120C>A	uc002gim.2	-	7	1012	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	3					8.24728e-16	8.82268e-16	1	1	0
PRDM11	56981	broad.mit.edu	37	11	45117366	45117366	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:45117366A>G	uc001myo.3	+	1	259	c.10A>G	c.(10-12)Atg>Gtg	p.M4V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	4										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						aatgttgaagatggcagagcc	0.507000													27	51					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33670458	33670458	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:33670458G>A	uc003and.4	-	15	2805	c.2226C>T	c.(2224-2226)taC>taT	p.Y742Y	LARGE_uc011amd.2_Silent_p.Y541Y|LARGE_uc003ane.4_Silent_p.Y742Y|LARGE_uc010gwp.3_Silent_p.Y690Y|LARGE_uc011ame.2_Silent_p.Y674Y|LARGE_uc011amf.2_Silent_p.Y693Y	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	742					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGCAAAGCCGTAGCGGCGGG	0.542000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	109					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000													8	33					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397651	397651	+	Missense_Mutation	SNP	G	G	A	rs148819261		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:397651G>A	uc021qbk.1	+	4	1131	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	PKP3_uc001lpc.3_Missense_Mutation_p.A353T	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	353					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGATGCAGCCGCCAAGAAGCA	0.637000													7	55					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53010008	53010008	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:53010008C>G	uc001sas.3	-	1	639	c.604G>C	c.(604-606)Gtg>Ctg	p.V202L		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	202	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCCTCACCCTGTCCCCA	0.612000													25	110					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021254	46021254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:46021254G>T	uc002zfn.4	+	1	743	c.718G>T	c.(718-720)Gtg>Ttg	p.V240L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	245	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGTCTGCTGTGTGCCCACCTG	0.652000													43	211					4.06502e-11	4.24979e-11	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54795993	54795993	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:54795993C>G	uc001sga.3	-	19	2172	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	702					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCTGAGTACTCAGCCTCTGGA	0.587000													19	56					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587452	55587452	+	Nonsense_Mutation	SNP	T	T	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:55587452T>G	uc010rin.2	+	0	347	c.347T>G	c.(346-348)tTa>tGa	p.L116*		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCTTTTTATTAGCTGTGATG	0.443000													70	114					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631511	99631511	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:99631511T>C	uc003usk.1	+	5	1602	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	ZKSCAN1_uc003usl.1_Silent_p.Y425Y|ZKSCAN1_uc003usm.1_Silent_p.Y248Y	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	461					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGAAACCTTATGAATGTAATG	0.502000													104	153					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99102249	99102249	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:99102249G>A	uc003yih.1	+	1	1152	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	335	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGACCAACGCATTGAAGGT	0.483000													24	60					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831983	58831983	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:58831983G>C	uc001xdp.3	+	19	3430	c.3176G>C	c.(3175-3177)aGt>aCt	p.S1059T	ARID4A_uc001xdo.3_Missense_Mutation_p.S1059T|ARID4A_uc001xdq.3_Missense_Mutation_p.S1059T|ARID4A_uc010apg.1_Missense_Mutation_p.S737T	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1059					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTACCTGTAGTATAATTGTA	0.378000													23	47					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72292936	72292936	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:72292936C>A	uc010rrc.2	-	21	2153	c.1907G>T	c.(1906-1908)tGc>tTc	p.C636F	PDE2A_uc001oso.3_Missense_Mutation_p.C615F|PDE2A_uc010rra.2_Missense_Mutation_p.C629F|PDE2A_uc001osn.3_Missense_Mutation_p.C380F|PDE2A_uc010rrb.2_Missense_Mutation_p.C627F|PDE2A_uc010rrd.2_Missense_Mutation_p.C521F	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	636	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGGGTCGGGCAGTCAATTTT	0.577000													9	63					2.74318e-10	2.80414e-10	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9389339	9389339	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:9389339A>G	uc021wam.1	+	18	1828	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	PLCB4_uc010gbw.1_Missense_Mutation_p.K605E|PLCB4_uc010gbx.3_Missense_Mutation_p.K617E|PLCB4_uc021wal.1_Missense_Mutation_p.K605E|PLCB4_uc002wnh.3_Missense_Mutation_p.K452E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	605	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGCTACTTGAAGACACATGC	0.373000													6	11					0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000													3	28					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	986944	986944	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:986944C>T	uc001lst.2	+	8	1338	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.N374N	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	374					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGTCATCAACGCCCTGAAGG	0.617000													3	12					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2161263	2161263	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:2161263T>C	uc004cqf.4	-	5	654	c.605A>G	c.(604-606)tAc>tGc	p.Y202C		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	202							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGGGGTGAGTAGCAGGCACT	0.642000													8	28					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23213883	23213883	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:23213883C>G	uc003svs.4	+	10	2020	c.1727C>G	c.(1726-1728)aCt>aGt	p.T576S	KLHL7_uc003svr.4_Missense_Mutation_p.T554S|KLHL7_uc011jys.2_Missense_Mutation_p.T500S|KLHL7_uc011jyt.2_Missense_Mutation_p.T351S|KLHL7_uc003svt.3_Missense_Mutation_p.T528S|KLHL7_uc011jyv.2_Missense_Mutation_p.T306S	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	576						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTCGATACTTGTGGAGCA	0.408000													15	66					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83116196	83116196	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:83116196T>C	uc004eei.1	+	0	27	c.6T>C	c.(4-6)tcT>tcC	p.S2S	CYLC1_uc004eeh.1_Silent_p.S2S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	2					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGGAAATGTCTCTTCCAAGGT	0.313000													10	35					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76134132	76134132	+	Missense_Mutation	SNP	C	C	T	rs149327841	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:76134132C>T	uc002jup.2	+	11	1778	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	TMC8_uc002juq.2_Missense_Mutation_p.R243W|TMC8_uc010wtr.1_Missense_Mutation_p.T171M|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	466						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGGCTGGAACGGGAGGAGTT	0.647000													16	117					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74750021	74750021	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:74750021A>G	uc010yrw.2	-	6	1430	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	DQX1_uc002smc.3_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	422	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGCTCTGCAATCTGTCTCCT	0.522000													53	79					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2983273	2983273	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:2983273G>A	uc002csd.3	+	4	1302	c.939G>A	c.(937-939)cgG>cgA	p.R313R	FLYWCH1_uc002csb.3_Silent_p.R312R|FLYWCH1_uc002csc.3_Silent_p.R312R|FLYWCH1_uc010bsv.3_5'UTR	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	313						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						ACGGCTGCCGGAGCCGGGCCA	0.667000													6	21					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													4	9	---	---	---	---					
LAG3	3902	broad.mit.edu	37	12	6882941	6882942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6882941_6882942insC	uc001qqt.4	+	2	634_635	c.285_286insC	c.(283-288)aggcccfs	p.R95fs	LAG3_uc001qqs.3_Frame_Shift_Ins_p.R95fs|LAG3_uc001qqu.3_5'UTR	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	95	Ig-like V-type.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGGCCCAGGCCCCGCCGCTA	0.792													3	5	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102461153	102461154	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:102461153_102461154delAG	uc001yks.2	+	12	3464_3465	c.3300_3301delAG	c.(3298-3303)aaagagfs	p.K1100fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1100	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACCAAGAAAGAGTTTGGACC	0.436													8	51	---	---	---	---					
THOC1	9984	broad.mit.edu	37	18	214519	214520	+	Splice_Site	INS	-	-	TTG	rs142588910		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr18:214519_214520insTTG	uc002kkj.4	-	21	2120	c.2080_splice	c.e21+1		THOC1_uc002kkh.4_Splice_Site	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.						RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTGTACAACAATTGTTATAAAA	0.351													4	2	---	---	---	---					
PAX1	5075	broad.mit.edu	37	20	21689966	21689967	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:21689966_21689967insG	uc002wsj.2	+	3	1220_1221	c.1166_1167insG	c.(1165-1167)ccgfs	p.P389fs	PAX1_uc010zsl.2_Frame_Shift_Ins_p.P389fs|PAX1_uc010zsm.2_Frame_Shift_Ins_p.P365fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	389					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACCTCGCCCCGGGCCCGCCGT	0.748													12	80	---	---	---	---					
