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
GABRD	2563	broad.mit.edu	37	1	1957086	1957086	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:1957086G>A	uc001aip.2	+	3	474	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	127						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CACCTTCATCGTGAACGCCAA	0.637												
RERE	473	broad.mit.edu	37	1	8419978	8419978	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8419978G>A	uc001ape.3	-	19	4274	c.3464C>T	c.(3463-3465)gCc>gTc	p.A1155V	RERE_uc001apf.3_Missense_Mutation_p.A1155V|RERE_uc001apd.3_Missense_Mutation_p.A601V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1155					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGGACCCGGCCAGAGGCAT	0.597												
RERE	473	broad.mit.edu	37	1	8684379	8684379	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8684379T>G	uc001ape.3	-	3	1196	c.386A>C	c.(385-387)gAc>gCc	p.D129A	RERE_uc001apf.3_Missense_Mutation_p.D129A|RERE_uc001aph.1_Missense_Mutation_p.D129A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	129	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D129V(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTTTGAAGTCTTGAATGCT	0.383												
KPNA6	23633	broad.mit.edu	37	1	32622514	32622514	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:32622514C>A	uc010ogy.2	+	2	241	c.214C>A	c.(214-216)Ctc>Atc	p.L72I	KPNA6_uc001bug.3_Missense_Mutation_p.L67I|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.L64I	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	67					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGATAGTCTTCTCATGGACTC	0.468												
HPCA	3208	broad.mit.edu	37	1	33354728	33354728	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:33354728G>A	uc001bwh.3	+	1	269	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	77	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCAACAGCGATGGCACCAT	0.547												
JAK1	3716	broad.mit.edu	37	1	65301859	65301860	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:65301859_65301860insAT	uc001dbu.1	-	22	3428_3429	c.3179_3180insAT	c.(3178-3180)attfs	p.I1060fs	JAK1_uc009wam.1_Frame_Shift_Ins_p.I1060fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.I237fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1060	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CGTCAGAGGCAATATAAAATTT	0.421			Mis		ALL							
CDC73	79577	broad.mit.edu	37	1	193099308	193099309	+	Frame_Shift_Ins	INS	-	-	AAATATT			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:193099308_193099309insAAATATT	uc001gtb.3	+	2	485_486	c.242_243insAAATATT	c.(241-243)gaafs	p.E81fs		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	81					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTTAGACTGAAAATATTCCTG	0.292												
NAV1	89796	broad.mit.edu	37	1	201782286	201782286	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:201782286C>T	uc021phi.1	+	27	5587	c.5240C>T	c.(5239-5241)tCg>tTg	p.S1747L	NAV1_uc001gwu.3_Missense_Mutation_p.S1744L|NAV1_uc001gwx.3_Missense_Mutation_p.S1353L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1747					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCTTTCTGTCGTGTCCCATT	0.507												
RYR2	6262	broad.mit.edu	37	1	237936883	237936883	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:237936883C>T	uc001hyl.1	+	86	11830	c.11710C>T	c.(11710-11712)Cgg>Tgg	p.R3904W	RYR2_uc010pya.2_Missense_Mutation_p.R319W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3904					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAAGGACAACGGAATTTCTC	0.338												
C10orf2	56652	broad.mit.edu	37	10	102748161	102748161	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr10:102748161G>A	uc001ksf.2	+	0	869	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R65Q|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	65					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	p.R65Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTATTTGCGGGGGCATGGG	0.572												
OR5L2	26338	broad.mit.edu	37	11	55594981	55594981	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:55594981G>T	uc001nhy.1	+	0	287	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L95I(1)|p.L95V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTTCCTAGGGTGCATGGTG	0.473										HNSCC(27;0.073)		
MED17	9440	broad.mit.edu	37	11	93543034	93543034	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:93543034C>A	uc001pem.4	+	10	2011	c.1736C>A	c.(1735-1737)gCt>gAt	p.A579D		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	579					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTGACTATGCTATTTCAGGT	0.408												
KRT18	3875	broad.mit.edu	37	12	53345364	53345364	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:53345364C>T	uc001sbe.3	+	4	826	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	KRT18_uc009zmn.2_Missense_Mutation_p.R253W|KRT18_uc001sbg.3_Missense_Mutation_p.R253W|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	253	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GGCAGACATCCGGGCCCAATA	0.582												
C12orf12	196477	broad.mit.edu	37	12	91347528	91347528	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:91347528C>G	uc001tbj.3	-	0	1426	c.992G>C	c.(991-993)gGa>gCa	p.G331A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	331	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ctcctcctctccctcctccac	0.547												
FOXN4	121643	broad.mit.edu	37	12	109719317	109719317	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:109719317G>T	uc001toe.4	-	8	1294	c.1189C>A	c.(1189-1191)Cac>Aac	p.H397N	FOXN4_uc009zvg.3_Missense_Mutation_p.H194N|FOXN4_uc001tof.4_Missense_Mutation_p.H217N	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	397					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						ATGGCGGGGTGGGGGAGCGGG	0.647												
HVCN1	84329	broad.mit.edu	37	12	111099035	111099035	+	Silent	SNP	G	G	A	rs138491014		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:111099035G>A	uc001trs.1	-	3	405	c.240C>T	c.(238-240)ccC>ccT	p.P80P	HVCN1_uc001trq.1_Silent_p.P80P|HVCN1_uc001trt.1_Silent_p.P80P|HVCN1_uc010syd.1_Silent_p.P60P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	80					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCCTGGGTGCGGGGCCAGGGG	0.642												
KNTC1	9735	broad.mit.edu	37	12	123097664	123097664	+	Silent	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:123097664A>G	uc001ucv.3	+	53	5791	c.5628A>G	c.(5626-5628)ttA>ttG	p.L1876L	KNTC1_uc010taf.2_Silent_p.L801L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1876					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAGACATTAGGTATGCATC	0.373												
TEX30	93081	broad.mit.edu	37	13	103418858	103418858	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr13:103418858A>G	uc001vpo.3	-	5	755	c.577T>C	c.(577-579)Tcc>Ccc	p.S193P	TEX30_uc001vpn.3_Missense_Mutation_p.S152P	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.	193										lung(1)|urinary_tract(1)	2						ACTGCCATGGAATGATTTGCC	0.368												
GTF3C1	2975	broad.mit.edu	37	16	27499713	27499713	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr16:27499713C>G	uc002dov.2	-	22	3575	c.3535G>C	c.(3535-3537)Ggg>Cgg	p.G1179R	GTF3C1_uc002dou.3_Missense_Mutation_p.G1179R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1179						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTGCTTCCCCCCAAATATTC	0.552												
RPAIN	84268	broad.mit.edu	37	17	5329307	5329307	+	Missense_Mutation	SNP	C	C	A	rs142664022	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:5329307C>A	uc002gbp.1	+						RPAIN_uc010vsz.1_Missense_Mutation_p.S110R|RPAIN_uc010vta.1_Intron|RPAIN_uc002gbq.2_Missense_Mutation_p.S110R|RPAIN_uc010vtb.1_Missense_Mutation_p.S110R|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Missense_Mutation_p.S110R|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Non-coding_Transcript|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank			Q86UA6	RIP_HUMAN	Homo sapiens RPA interacting protein (RPAIN), transcript variant 8, non-coding RNA.						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CCATCATCAGCGAGTATGAGA	0.478												
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:7579699C>T	uc002gim.2	-	3	290	c.96_splice	c.e3+1	p.L32_splice	TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.3_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	32	Interaction with HRMT1L2.|Transcription activation (acidic).				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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CTTGTCCTTACCAGAACGTTG	0.597		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)		
MBD3	53615	broad.mit.edu	37	19	1578435	1578435	+	Silent	SNP	C	C	T	rs150880184		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:1578435C>T	uc002ltj.3	-	5	802	c.780G>A	c.(778-780)gcG>gcA	p.A260A	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Silent_p.A228A|MBD3_uc002ltl.1_Silent_p.A260A	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	260					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGCGGCGCCTCCCCGT	0.692												
NOTCH3	4854	broad.mit.edu	37	19	15280951	15280951	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:15280951C>T	uc002nan.3	-	27	5221	c.5145G>A	c.(5143-5145)ggG>ggA	p.G1715G		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1715					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCCACCTCCCCCATCAGGC	0.627												
FKBP8	23770	broad.mit.edu	37	19	18648452	18648452	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:18648452G>A	uc002njk.1	-	5	1014	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	FKBP8_uc010xqi.1_Missense_Mutation_p.H330Y|FKBP8_uc002njj.1_Missense_Mutation_p.H302Y|FKBP8_uc021uqp.1_Missense_Mutation_p.H142Y	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	301					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	p.H302Y(1)|p.E301D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TCTGGCTGGTGCTCCAGCACA	0.642												
NFKBIB	4793	broad.mit.edu	37	19	39398200	39398200	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:39398200C>T	uc002ojw.3	+	4	973	c.870C>T	c.(868-870)gcC>gcT	p.A290A	NFKBIB_uc010egk.2_Silent_p.A204A|NFKBIB_uc002ojx.3_Silent_p.A258A|NFKBIB_uc002ojy.3_Silent_p.A290A	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	290					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCATCCTCGCCCGCCTCCTCC	0.706												
AXL	558	broad.mit.edu	37	19	41744401	41744401	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:41744401A>G	uc010ehj.3	+	7	1211	c.1021A>G	c.(1021-1023)Agt>Ggt	p.S341G	AXL_uc010ehi.1_Missense_Mutation_p.S341G|AXL_uc010ehk.3_Missense_Mutation_p.S341G	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	341	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGAGAACATTAGTGCTACGCG	0.657												
RRM2	6241	broad.mit.edu	37	2	10264898	10264898	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:10264898T>C	uc021vdr.1	+	4	721	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	164					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTTCTATGGCTTCCAAATTGC	0.383												
POLR1A	25885	broad.mit.edu	37	2	86272410	86272410	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:86272410T>C	uc002sqs.3	-	20	3339	c.2960A>G	c.(2959-2961)tAt>tGt	p.Y987C	POLR1A_uc010ytb.2_Missense_Mutation_p.Y353C|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	987					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTTGGAGATAGCCTGAGCG	0.522												
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:96992793_96992795delGAG	uc002svy.3	+	0	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_uc002svx.3_In_Frame_Del_p.E147del|ITPRIPL1_uc010yuk.2_In_Frame_Del_p.E139del|ITPRIPL1_uc010yul.2_In_Frame_Del_p.E139del	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532												
GLI2	2736	broad.mit.edu	37	2	121744096	121744096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:121744096delG	uc010flp.3	+	11	2229	c.2199delG	c.(2197-2199)aagfs	p.K733fs	GLI2_uc002tmq.1_Frame_Shift_Del_p.K405fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.K388fs|GLI2_uc002tmt.4_Frame_Shift_Del_p.K405fs|GLI2_uc002tmu.4_Frame_Shift_Del_p.K388fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.K716fs	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	733					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCAGCTCAAGAAGGAGAAGC	0.647												
TTN	7273	broad.mit.edu	37	2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179438951G>A	uc021vsy.1	-	274	64429	c.64204C>T	c.(64204-64206)Cgg>Tgg	p.R21402W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22329	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21402C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCACCGTCCATTAGGA	0.413												
TTN	7273	broad.mit.edu	37	2	179466465	179466465	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179466465C>A	uc021vsy.1	-	234	47873	c.47648G>T	c.(47647-47649)cGa>cTa	p.R15883L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9578L|TTN_uc021vta.1_Missense_Mutation_p.R9511L|TTN_uc021vtb.1_Missense_Mutation_p.R9386L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16810	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATGAGATCGTTTACACTC	0.363												
DNAH7	56171	broad.mit.edu	37	2	196825609	196825609	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:196825609G>A	uc002utj.4	-	17	2367	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	756	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTTTTTACGTTGAGGATAT	0.368												
C20orf85	128602	broad.mit.edu	37	20	56728664	56728664	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr20:56728664A>T	uc002xyv.3	+	1	171	c.133A>T	c.(133-135)Aca>Tca	p.T45S		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	45										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGGGTTTTTAACAACCCCTTT	0.433												
TMPRSS15	5651	broad.mit.edu	37	21	19713765	19713765	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:19713765G>C	uc002ykw.3	-	12	1560	c.1529C>G	c.(1528-1530)cCa>cGa	p.P510R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	510					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E509*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACCAAAGTTGGTTCTGGATA	0.398												
RIPK4	54101	broad.mit.edu	37	21	43161460	43161460	+	Silent	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:43161460G>A	uc002yzn.1	-	7	1941	c.1893C>T	c.(1891-1893)aaC>aaT	p.N631N		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	631						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697												
PRAME	23532	broad.mit.edu	37	22	22892481	22892481	+	Missense_Mutation	SNP	C	C	T	rs116965324	by1000genomes	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:22892481C>T	uc002zwf.3	-	3	776	c.620G>A	c.(619-621)cGc>cAc	p.R207H	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.R191H|PRAME_uc010gtr.3_Missense_Mutation_p.R207H|PRAME_uc002zwg.3_Missense_Mutation_p.R207H|PRAME_uc002zwh.3_Missense_Mutation_p.R207H|PRAME_uc002zwi.3_Missense_Mutation_p.R207H|PRAME_uc002zwj.3_Missense_Mutation_p.R207H|PRAME_uc002zwk.3_Missense_Mutation_p.R207H	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	207					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.R207H(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGCACAGGCGTAGTACATT	0.443												
DEPDC5	9681	broad.mit.edu	37	22	32239092	32239092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:32239092C>T	uc011alu.2	+	27	2729	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R765*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R834*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R834*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R283*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R164*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R132*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	834					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTGTGTCCCGAAACCGCCC	0.433												
SUSD5	26032	broad.mit.edu	37	3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:33194586G>A	uc003cfo.1	-	4	1956	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	513					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522												
STAB1	23166	broad.mit.edu	37	3	52551109	52551109	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:52551109C>T	uc003dej.3	+	41	4547	c.4473C>T	c.(4471-4473)gaC>gaT	p.D1491D	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1491	EGF-like 11.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGGGCGACGGGGAGCTGT	0.622												
TMEM14E	645843	broad.mit.edu	37	3	152058532	152058532	+	Silent	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:152058532A>G	uc010hvo.3	-	0	248	c.162T>C	c.(160-162)tcT>tcC	p.S54S	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	54						integral to membrane				lung(1)	1						GTGATGGCTGAGAAGCATCCA	0.453												
PDE6B	5158	broad.mit.edu	37	4	619881	619881	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:619881G>A	uc003gap.3	+	0	519	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PDE6B_uc003gao.4_Missense_Mutation_p.E156K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	156	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGACGTGGCCGAGGTGGGTCT	0.642												
HS3ST1	9957	broad.mit.edu	37	4	11401266	11401266	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:11401266C>T	uc003gmq.3	-	1	687	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	HS3ST1_uc021xmg.1_Missense_Mutation_p.A122T	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	122						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P121L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTGAAATACGCGGGGGTCTTC	0.612												
UGT2A1	10941	broad.mit.edu	37	4	70455276	70455276	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:70455276C>T	uc011caq.2	-	6	2012	c.1896G>A	c.(1894-1896)atG>atA	p.M632I	UGT2A1_uc010ihu.3_Missense_Mutation_p.M466I|UGT2A1_uc003hem.4_Missense_Mutation_p.M466I|UGT2A1_uc010ihs.3_Missense_Mutation_p.M475I|UGT2A1_uc021xox.1_Missense_Mutation_p.M431I|UGT2A1_uc010iht.3_Missense_Mutation_p.M422I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	466					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTGTGGCGCATGACAAACT	0.478												
ODAM	54959	broad.mit.edu	37	4	71062419	71062419	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:71062419A>T	uc003hfc.3	+	1	79	c.62A>T	c.(61-63)cAg>cTg	p.Q21L		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	21					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CTTATCCCACAGCGTCTCATG	0.333												
MAST4	375449	broad.mit.edu	37	5	66084566	66084566	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:66084566G>A	uc021xzk.1	+	2	894	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	MAST4_uc010iwz.3_Missense_Mutation_p.V196M|MAST4_uc003jur.4_Missense_Mutation_p.V196M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	196						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTCCAACCTCGTGCGCATGCG	0.657												
PCDHAC2	56147	broad.mit.edu	37	5	140167892	140167892	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:140167892G>A	uc003lhb.2	+	0	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G673S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	682	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAGCGGCCAGGCGCC	0.657												
PCDHB18	54660	broad.mit.edu	37	5	140616175	140616175	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:140616175C>T	uc003ljc.1	+	0	2238	c.1890C>T	c.(1888-1890)gcC>gcT	p.A630A						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGGCCCAGGCCGACTCCCTCA	0.687												
SLC44A4	80736	broad.mit.edu	37	6	31838592	31838592	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:31838592C>T	uc010jti.3	-	9	1000	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	SLC44A4_uc011dol.2_Missense_Mutation_p.A236T|SLC44A4_uc011dom.2_Missense_Mutation_p.A270T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTCACGGGCGGCCAGCCAG	0.692												
COL19A1	1310	broad.mit.edu	37	6	70637867	70637867	+	Silent	SNP	C	C	T	rs143252227	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:70637867C>T	uc003pfc.1	+	4	450	c.333C>T	c.(331-333)aaC>aaT	p.N111N	COL19A1_uc010kam.2_Silent_p.N7N	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	111	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACGAAGAAACGCCAAAAAGG	0.428												
AHR	196	broad.mit.edu	37	7	17378648	17378648	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:17378648C>T	uc011jxz.1	+	9	1812	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	400					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAACGAAATACGAAGTTGCCT	0.333												
RABGEF1	27342	broad.mit.edu	37	7	66240279	66240279	+	Missense_Mutation	SNP	C	C	T	rs149995446	by1000genomes	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:66240279C>T	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.T82I|RABGEF1_uc010lag.3_Missense_Mutation_p.T82I|RABGEF1_uc011kee.2_Missense_Mutation_p.T96I|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCCTCACATTCTCCAAG	0.483												
PCLO	27445	broad.mit.edu	37	7	82784650	82784650	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:82784650G>A	uc003uhx.2	-	1	1596	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	PCLO_uc003uhv.2_Missense_Mutation_p.P436L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	388	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTCTTTGTAGGCCCAGGTGC	0.587												
SEMA3D	223117	broad.mit.edu	37	7	84671590	84671590	+	Silent	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:84671590T>C	uc003uic.3	-	7	913	c.873A>G	c.(871-873)ggA>ggG	p.G291G	SEMA3D_uc010led.3_Silent_p.G291G|SEMA3D_uc003uib.3_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	291	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCGTTGTCCTCCTACATCAT	0.378												
AKAP9	10142	broad.mit.edu	37	7	91708676	91708676	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:91708676delC	uc003ulg.3	+	30	7454	c.7229delC	c.(7228-7230)accfs	p.T2410fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.T2402fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.T2033fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.T180fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2422	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAAATGACCTTCATGAAA	0.353			T	BRAF	papillary thyroid							
AP4M1	9179	broad.mit.edu	37	7	99702962	99702962	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:99702962A>T	uc003utb.4	+	9	1035	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	AP4M1_uc011kjg.1_Missense_Mutation_p.Q230L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q276L|AP4M1_uc003utd.3_Missense_Mutation_p.Q276L|AP4M1_uc011kjh.2_Missense_Mutation_p.Q228L|AP4M1_uc003ute.4_Missense_Mutation_p.Q51L|AP4M1_uc003utf.4_Missense_Mutation_p.Q148L	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	276	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACCACCTCAGGGCGAGGTC	0.552												
RELN	5649	broad.mit.edu	37	7	103293088	103293088	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:103293088A>G	uc022ajr.1	-	13	1833	c.1673T>C	c.(1672-1674)tTc>tCc	p.F558S	RELN_uc022ajq.1_Missense_Mutation_p.F558S|RELN_uc010liz.3_Missense_Mutation_p.F558S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	558					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F558L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGACATGGAAAAAGTCTAC	0.448												
REPIN1	29803	broad.mit.edu	37	7	150068992	150068992	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:150068992C>T	uc010lpr.1	+	2	1026	c.833C>T	c.(832-834)gCg>gTg	p.A278V	REPIN1_uc003whd.2_Missense_Mutation_p.A210V|REPIN1_uc010lpq.1_Missense_Mutation_p.A221V|REPIN1_uc003whc.2_Missense_Mutation_p.A221V|REPIN1_uc003whe.2_Missense_Mutation_p.A221V	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	221					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ggccgccccgcggtgaccgcc	0.711												
MLL3	58508	broad.mit.edu	37	7	151904459	151904459	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:151904459G>C	uc003wla.3	-	23	3986	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	MLL3_uc003wkz.3_Missense_Mutation_p.A317G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1256					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCATCCACAGCTTCCCGCTC	0.393			N		medulloblastoma							
UBE3C	9690	broad.mit.edu	37	7	157000142	157000142	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:157000142T>C	uc010lqs.3	+	11	1781	c.1469T>C	c.(1468-1470)tTt>tCt	p.F490S	UBE3C_uc003wng.2_Missense_Mutation_p.F490S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	490					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.S489T(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTATGTCTTTTGAAGATTCT	0.358												
SGK223	157285	broad.mit.edu	37	8	8234543	8234543	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr8:8234543C>T	uc003wsh.4	-	1	1376	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	459							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGGCTGTCCCGGCCCCAGCC	0.622												
CNTNAP3	79937	broad.mit.edu	37	9	39140559	39140559	+	Silent	SNP	T	T	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:39140559T>A	uc004abi.3	-	11	2072	c.1833A>T	c.(1831-1833)ggA>ggT	p.G611G	CNTNAP3_uc004abj.3_Silent_p.G611G|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.G611G|CNTNAP3_uc011lqs.1_Silent_p.G518G	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	611	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCCACTTCCATCTGCAT	0.453												
ZNF618	114991	broad.mit.edu	37	9	116810979	116810979	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:116810979G>A	uc004bid.3	+	14	1496	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	ZNF618_uc004bic.3_Missense_Mutation_p.R373Q|ZNF618_uc011lxi.2_Missense_Mutation_p.R433Q|ZNF618_uc011lxj.2_Missense_Mutation_p.R434Q|ZNF618_uc010mvb.3_Missense_Mutation_p.R56Q	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAAAAGGAGCGGCAGAACATC	0.552												
PNPLA7	375775	broad.mit.edu	37	9	140389550	140389550	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:140389550G>A	uc010ncj.1	-	18	2399	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.R663W	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	663					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTGAGTCCCGAACGGCATGC	0.687												
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	Silent	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:141070969A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.A196A(1)									TAGAAAACGCAGATGAGACCT	0.517												
ZCCHC13	389874	broad.mit.edu	37	X	73524398	73524398	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:73524398T>A	uc004ebs.4	+	0	374	c.297T>A	c.(295-297)caT>caA	p.H99Q		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	99							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GACTAGGACATCTGGCTCGTG	0.512												
MAGEA12	4111	broad.mit.edu	37	X	151900252	151900252	+	Silent	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:151900252G>A	uc022chj.1	-	0	549	c.549C>T	c.(547-549)ggC>ggT	p.G183G	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.G183G|MAGEA12_uc022chi.1_Silent_p.G183G|MAGEA12_uc004fgc.3_Silent_p.G183G|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	183	MAGE.							p.L182Q(1)|p.G183V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGTAGGAGAGGCCCAGGCAGG	0.577