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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	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	8					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422370	49422370	+	Silent	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:49422370G>T	uc002plb.4	+	8	1234	c.900G>T	c.(898-900)gtG>gtT	p.V300V	NUCB1_uc002pla.3_Silent_p.V300V|Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_5'UTR	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	300	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.			HV -> QL (in Ref. 1; AAA36383).		ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGGAGCATGTGATGAAGAATG	0.622000													4	39					0.000602214	0.000602214	1	1	0
SCTR	6344	broad.mit.edu	37	2	120197767	120197767	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:120197767C>T	uc002tma.3	-	12	1475	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	SCTR_uc002tlz.3_Missense_Mutation_p.A239T	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	417					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGAAGGAGGCCACGGGGTGC	0.637000													12	26					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480060	142480060	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:142480060C>T	uc011ksq.2	+	1	275	c.192C>T	c.(190-192)tgC>tgT	p.C64C	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CAGGTCACTGCTACAAGCCGT	0.567000													22	92					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000													6	90					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146126348	146126348	+	Silent	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:146126348A>G	uc003qla.3	-	1	1393	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	398	F-box.						ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCTTTGGTTTAGACCAACATG	0.388000													48	91					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131105	150131105	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:150131105G>A	uc001ett.3	+	5	895	c.617G>A	c.(616-618)aGc>aAc	p.S206N	PLEKHO1_uc001ets.3_Missense_Mutation_p.S23N|PLEKHO1_uc001etu.3_Missense_Mutation_p.S34N|PLEKHO1_uc021oyc.1_Missense_Mutation_p.S23N	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGCTGAGAGCTTTCGGGTT	0.617000													7	93					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27279873	27279873	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:27279873C>T	uc003xfn.2	+	9	1332	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PTK2B_uc022ate.1_Missense_Mutation_p.A175V|PTK2B_uc003xfp.2_Missense_Mutation_p.A175V|PTK2B_uc003xfq.2_Missense_Mutation_p.A175V	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	175	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGGGCATGGCCCTGCAGCTG	0.652000													3	39					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6654108	6654108	+	Missense_Mutation	SNP	G	G	A	rs139750490		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:6654108G>A	uc001mem.1	-	5	3036	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	879	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACGCACCCGAGCTACAGCG	0.597000													7	38					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18739488	18739488	+	Silent	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:18739488G>A	uc009yht.2	-	8	1153	c.963C>T	c.(961-963)ctC>ctT	p.L321L	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	321	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCAGCACTGTGAGCTCTGCAC	0.542000													15	69					0	0	1	0	0
TCRGV	0	broad.mit.edu	37	7	38402510	38402510	+	Silent	SNP	T	T	A	rs3999869		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:38402510T>A	uc003tgs.1	-	1	499	c.309A>T	c.(307-309)ctA>ctT	p.L103L	LOC100506776_uc003tgp.2_Intron					Homo sapiens cDNA clone IMAGE:5227869, **** WARNING: chimeric clone ****.																		CATTTTCAATTAGATTTCGCA	0.463000													4	53					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122931899	122931899	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:122931899G>A	uc001pyo.3	-	1	269	c.134C>T	c.(133-135)aCg>aTg	p.T45M	HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.T45M|HSPA8_uc010rzu.2_Missense_Mutation_p.T45M|HSPA8_uc009zbd.2_Missense_Mutation_p.T45M|HSPA8_uc010rzv.1_Missense_Mutation_p.T45M	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	45					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCAGTGTCCGTAAAGGCGAC	0.463000													3	43					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860104	67860104	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67860104G>C	uc010vka.2	+	9	1270	c.1194G>C	c.(1192-1194)aaG>aaC	p.K398N	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.K221N|TSNAXIP1_uc002euf.4_Missense_Mutation_p.K77N|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.K329N|TSNAXIP1_uc002eug.4_Missense_Mutation_p.K52N|TSNAXIP1_uc002euh.4_Missense_Mutation_p.K52N|TSNAXIP1_uc002eui.4_Missense_Mutation_p.K52N|TSNAXIP1_uc002euj.3_Missense_Mutation_p.K344N|TSNAXIP1_uc002euk.3_Missense_Mutation_p.K77N	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	344					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.V398V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTGAGGGCAAGAACAGCGACC	0.637000													3	56					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666113	30666113	+	Silent	SNP	A	A	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:30666113A>C	uc002dyy.3	+	7	1080	c.822A>C	c.(820-822)ccA>ccC	p.P274P	PRR14_uc002dyz.3_Silent_p.P119P|PRR14_uc002dza.3_Silent_p.P274P|PRR14_uc002dzb.1_Silent_p.P88P	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	274	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CACAGCCCCCACCCCCGTCCC	0.652000													4	21					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77277523	77277523	+	Splice_Site	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr9:77277523G>T	uc004aji.3	+	6	974	c.925_splice	c.e6+1	p.G309_splice	RORB_uc004ajh.3_Splice_Site_p.G298_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	309	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGAAGTCAGGTAAGCAAGAA	0.458000													12	74					7.93312e-07	8.24422e-07	1	1	0
SNRPB	6628	broad.mit.edu	37	20	2444499	2444499	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr20:2444499C>T	uc002wfz.1	-	3	477	c.314G>A	c.(313-315)gGg>gAg	p.G105E	SNRPB_uc002wga.1_Missense_Mutation_p.G105E|SNRPB_uc010zpv.2_Missense_Mutation_p.G26E|SNRPB_uc002wgb.3_Missense_Mutation_p.G105E|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	105					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCGATCCCTGGGCCCCC	0.587000													5	135					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16050900	16050900	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:16050900C>T	uc010shw.2	+	7	1116	c.762C>T	c.(760-762)ggC>ggT	p.G254G	STRAP_uc001rdc.4_Silent_p.G241G|STRAP_uc001rdd.4_Silent_p.G147G	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	241					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTGTTGCAGGCGGTGAAGATT	0.343000													19	34					0	0	1	0	0
OBFC2B	79035	broad.mit.edu	37	12	56622875	56622875	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:56622875T>C	uc001skk.3	+	5	648	c.589T>C	c.(589-591)Tcc>Ccc	p.S197P	OBFC2B_uc001ski.3_Missense_Mutation_p.S172P	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2B (OBFC2B), mRNA.	172	Pro-rich.				G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						TCATACTCCCTCCCACCCACC	0.597000								Other identified genes with known or suspected DNA repair function					5	15					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100140	110100140	+	Silent	SNP	C	C	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:110100140C>G	uc003ymz.4	+	0	488	c.399C>G	c.(397-399)gcC>gcG	p.A133A		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	133						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCATCAAAGCCCAGTTTCTCT	0.413000													20	33					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233254	84233254	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:84233254A>T	uc003pjz.3	+	1	334	c.94A>T	c.(94-96)Aga>Tga	p.R32*	PRSS35_uc010kbm.3_Nonsense_Mutation_p.R32*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R32*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	32					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTGGCACTTGAGAAAGGTACC	0.448000													9	105					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(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.F270fs*72(1)|p.S269fs*21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	7					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													6	18					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54720585	54720585	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:54720585C>T	uc003jpy.4	+	26	3380	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SKIV2L2_uc011cqi.2_Silent_p.A937A	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	1038					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGTTTGCTGCCAGCCTCTACT	0.378000													4	38					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866024	208866024	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:208866024C>T	uc002vcl.2	-	1	830	c.340G>A	c.(340-342)Gca>Aca	p.A114T	PLEKHM3_uc002vcm.2_Missense_Mutation_p.A114T	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	114					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTGATGCTTCCTTTTGT	0.453000													16	79					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31747794	31747794	+	Silent	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:31747794T>C	uc004dda.1	-	51	7858	c.7614A>G	c.(7612-7614)aaA>aaG	p.K2538K	DMD_uc004dcr.1_Silent_p.K78K|DMD_uc004dcs.1_Silent_p.K78K|DMD_uc004dct.1_Silent_p.K78K|DMD_uc004dcu.1_Silent_p.K78K|DMD_uc004dcv.1_Silent_p.K78K|DMD_uc004dcw.2_Silent_p.K1194K|DMD_uc004dcx.2_Silent_p.K1197K|DMD_uc004dcz.2_Silent_p.K2415K|DMD_uc004dcy.1_Silent_p.K2534K|DMD_uc004ddb.1_Silent_p.K2530K|DMD_uc004ddd.1_Silent_p.K78K	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGTCTTGTTTTTCAAATTTT	0.413000													48	84					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976622	46976622	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:46976622C>T	uc001cpx.3	+	2	379	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	DMBX1_uc001cpw.3_Missense_Mutation_p.R117C	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	122	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTTCAAGAACCGCCGGGCCAA	0.617000													3	20					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108308132	108308132	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:108308132G>A	uc003dxb.4	-	0	360	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	DZIP3_uc003dxd.3_5'Flank|KIAA1524_uc010hpw.1_5'UTR|DZIP3_uc003dxe.1_5'Flank	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	31						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAGTGCCGCAAAAGCTGA	0.587000													3	30					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25119191	25119191	+	Nonsense_Mutation	SNP	G	G	A	rs147640812		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr22:25119191G>A	uc003abd.1	-	18	2707	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	PIWIL3_uc011ajx.1_Nonsense_Mutation_p.R646*|PIWIL3_uc010gut.1_Nonsense_Mutation_p.R755*|PIWIL3_uc011ajy.1_Nonsense_Mutation_p.R646*	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	764	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTGTTTATTCGTTTCTTCACC	0.343000													3	41					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:95522815A>G	uc010fhp.3	-	0		c.6T>C						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATCTTCTGCAATTCGGAGTCC	0.652000													5	102					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33660584	33660584	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:33660584T>G	uc021ywr.1	+	54	7762	c.7538T>G	c.(7537-7539)tTt>tGt	p.F2513C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2513					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AACCTCATCTTTGGGGTAATC	0.517000													4	92					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:29910693A>G	uc003nol.3	+	1	317	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.Q78R(4)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	30					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140070858	140070858	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:140070858A>T	uc003lgv.3	-	0	114	c.32T>A	c.(31-33)gTg>gAg	p.V11E	HARS_uc011czm.2_Missense_Mutation_p.V11E|HARS_uc003lgw.3_Missense_Mutation_p.V11E|HARS_uc011czn.2_Missense_Mutation_p.V11E|HARS_uc011czo.2_Missense_Mutation_p.V11E|HARS_uc011czp.2_Missense_Mutation_p.V11E|HARS_uc011czq.2_Missense_Mutation_p.V11E|HARS2_uc010jfv.1_5'Flank|HARS2_uc003lgx.3_5'Flank|HARS2_uc011czr.2_5'Flank|HARS2_uc011czs.2_5'Flank|HARS2_uc011czt.2_5'Flank	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	11	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTGAAGTTTCACCAGCTCCTC	0.652000													11	29					0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594261	9594261	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:9594261T>C	uc003bry.3	-	1	389	c.103A>G	c.(103-105)Atc>Gtc	p.I35V		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	35						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGTTGATGATGGCGAAGCAG	0.632000													5	70					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000													4	90					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937081	76937081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76937081C>A	uc004ecp.4	-	8	3899	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E1185*|ATRX_uc004eco.4_Nonsense_Mutation_p.E1008*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E1155*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E1194*|ATRX_uc010nly.1_Nonsense_Mutation_p.E1168*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1223					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.E1223Q(3)|p.E1223E(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTTTCTGTTCATCGCTGCTT	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	54					2.48551e-13	2.63464e-13	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:56459540G>A	uc002qmh.3	+	0	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_uc010etg.3_Missense_Mutation_p.R91H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	91	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512000													13	27					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153906497	153906497	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:153906497G>C	uc004fmk.1	-	9	1770	c.1722C>G	c.(1720-1722)agC>agG	p.S574R	GAB3_uc004fmj.1_Missense_Mutation_p.S573R|GAB3_uc010nve.1_Missense_Mutation_p.S535R|GAB3_uc004fml.1_Missense_Mutation_p.S193R	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	573										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGTTTTGTGCTCTGGAGAG	0.463000													6	101					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr22:22664115A>T	uc021wml.1	+	31		c.2557A>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTTTAATTCAGCCTTGGAAG	0.413000													4	58					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67663410	67663410	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67663410C>G	uc002etl.3	+	9	2255	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	CTCF_uc010cek.3_Missense_Mutation_p.S276C|CTCF_uc002etm.1_Missense_Mutation_p.S93C	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	604					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R603R(2)|p.R603C(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAGATGCGCTCTAAGAAAGAA	0.448000													6	55					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195803944	195803944	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:195803944G>C	uc003fvz.4	-	1	310	c.27C>G	c.(25-27)ttC>ttG	p.F9L	TFRC_uc003fwa.4_Missense_Mutation_p.F9L|TFRC_uc010hzy.3_5'UTR|TFRC_uc011btr.2_5'UTR	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	9	Mediates interaction with SH3BP4.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAAGTTAGAGAATGCTGATC	0.343000			T	BCL6	NHL								14	34					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								14	30					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723304	49723304	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:49723304C>T	uc003cxg.3	-	9	1311	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_uc011bcs.1_Missense_Mutation_p.R452H	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682000													5	121					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996422	120996422	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:120996422A>G	uc010rzo.2	+	6	1615	c.1615A>G	c.(1615-1617)Act>Gct	p.T539A		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	539	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTGTGGCACTGTCGTGGA	0.592000													7	176					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119305222	119305222	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:119305222G>A	uc003ecs.3	+	3	687	c.389G>A	c.(388-390)gGg>gAg	p.G130E	ADPRH_uc010hqv.3_Missense_Mutation_p.G130E|ADPRH_uc011bjb.2_Missense_Mutation_p.G23E|ADPRH_uc003ect.3_Missense_Mutation_p.G130E	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	130					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCGGCTGTGGGGCTGCCATG	0.612000													9	150					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93749186	93749186	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:93749186A>G	uc001khr.3	+	19	2801	c.2703A>G	c.(2701-2703)atA>atG	p.I901M	BTAF1_uc001khs.1_Missense_Mutation_p.I571M|BTAF1_uc001kht.1_Missense_Mutation_p.I339M	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	901					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTCAGTGCATAGCTAAACTCC	0.388000													30	46					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1264587	1264587	+	Silent	SNP	G	G	A	rs34528119		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:1264587G>A	uc003jcb.1	-	10	2833	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	TERT_uc003jbz.1_Silent_p.H121H|TERT_uc003jcc.1_Intron|TERT_uc003jca.1_Silent_p.H913H|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Silent_p.H77H	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	925	Required for oligomerization.|Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAATAGGCCGTGGGCCGGCA	0.627000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				20	44					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106477695	106477695	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:106477695G>T	uc001tlj.1	-	3	1906	c.526C>A	c.(526-528)Cac>Aac	p.H176N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	176	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGTCCCGGTGGACCACACCG	0.498000													4	63					0.000602214	0.000602214	1	1	0
KRI1	65095	broad.mit.edu	37	19	10670353	10670353	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:10670353G>A	uc002moy.1	-	10	986	c.977C>T	c.(976-978)tCc>tTc	p.S326F	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.S322F	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	326	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACGGCGCACGGAGGACGCGAT	0.622000													13	45					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-	rs71796067		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													3	5	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													6	6	---	---	---	---					
DDX60L	91351	broad.mit.edu	37	4	169379129	169379129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr4:169379129delT	uc021xuh.1	-	4	747	c.637delA	c.(637-639)agcfs	p.S213fs	DDX60L_uc003irq.4_Frame_Shift_Del_p.S213fs|DDX60L_uc003irr.1_Frame_Shift_Del_p.S213fs|DDX60L_uc003irs.1_5'Flank	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	213							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTATGAGGCTTTTATATGCA	0.294													2	4	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:31939825_31939826insG	uc003nyv.3	+	0	180_181	c.52_53insG	c.(52-54)cggfs	p.R18fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													9	184	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	155	---	---	---	---					
FOXK1	221937	broad.mit.edu	37	7	4798771	4798771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:4798771delC	uc003snc.1	+	5	1344	c.1334delC	c.(1333-1335)tccfs	p.S445fs	FOXK1_uc003sna.1_Frame_Shift_Del_p.S282fs	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	445				Missing (in Ref. 1; AK122663).	cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G444C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGGGAGGGCTCCCCCATTCCA	0.652													7	245	---	---	---	---					
GUSBP10	642006	broad.mit.edu	37	7	57245925	57245925	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:57245925delG	uc022aeb.1	-	1	457	c.298delC	c.(298-300)cacfs	p.H100fs						Homo sapiens glucuronidase, beta pseudogene 10 (GUSBP10), non-coding RNA.																		TCATAGGAGTGGGCACTGCCA	0.612													2	4	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	131829883	131829889	+	Frame_Shift_Del	DEL	GCTCTTC	GCTCTTC	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:131829883_131829889delGCTCTTC	uc003vra.4	-	28	5443_5449	c.5214_5220delGAAGAGC	c.(5212-5220)tggaagagcfs	p.W1738fs	PLXNA4_uc003vqz.4_Frame_Shift_Del_p.W23fs	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1738						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCACCAATTGCTCTTCCAGGTATGGC	0.594													10	58	---	---	---	---					
SMPD1	6609	broad.mit.edu	37	11	6412868	6412870	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:6412868_6412870delTAG	uc001mcw.3	+	1	758_760	c.573_575delTAG	c.(571-576)cctagc>ccc	p.S192del	SMPD1_uc021qcz.1_In_Frame_Del_p.S192del|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_In_Frame_Del_p.S191del|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	190					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.S192fs*1(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCAAACCCCCTAGCCCCCCAGCC	0.626													3	6	---	---	---	---					
