#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
AJAP1	55966	broad.mit.edu	37	1	4772048	4772048	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr1:4772048G>A	ENST00000378191.4	+	2	499	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.A40T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	40					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A40T(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GGACCTGCCCGCCTGTGAGGC	0.721																																																1	Substitution - Missense(1)	ovary(1)	1											59.0	80.0	73.0					1																	4772048		2189	4288	6477	4671908	SO:0001583	missense	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.118G>A	1.37:g.4772048G>A	ENSP00000367433:p.Ala40Thr	Unknown		x	x	x	4671908	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	3.552	-0.091562	0.07053	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.44482	0.92;0.92	5.08	-10.2	0.00374	.	1.283680	0.05289	N	0.520772	T	0.13200	0.0320	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14559	-1.0468	10	0.19590	T	0.45	-2.5503	6.3523	0.21383	0.4551:0.0:0.1167:0.4282	.	40	Q9UKB5	AJAP1_HUMAN	T	40	ENSP00000367432:A40T;ENSP00000367433:A40T	ENSP00000367432:A40T	A	+	1	0	AJAP1	4671908	0.000000	0.05858	0.002000	0.10522	0.467000	0.32768	-0.993000	0.03720	-2.201000	0.00746	-1.008000	0.02478	GCC		0.721	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		Missense_Mutation
PGD	5226	broad.mit.edu	37	1	10477466	10477466	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr1:10477466C>G	ENST00000270776.8	+	10	1047	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000538557.1_Missense_Mutation_p.Q324E|PGD_ENST00000541529.1_Missense_Mutation_p.Q315E	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	337					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.Q337E(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CTCTTACGCTCAAGGCTTTAT	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											199.0	197.0	198.0					1																	10477466		2203	4300	6503	10400053	SO:0001583	missense	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1009C>G	1.37:g.10477466C>G	ENSP00000270776:p.Gln337Glu	Unknown		x	x	x	10400053	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686770	0.88639	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.61742	0.08;0.08;0.08	4.8	4.8	0.61643	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	D	0.87163	0.2216	10	0.87932	D	0	-18.4202	18.2416	0.89969	0.0:1.0:0.0:0.0	.	315;337;337	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	E	315;283;337;324	ENSP00000442285:Q315E;ENSP00000270776:Q337E;ENSP00000437822:Q324E	ENSP00000270776:Q337E	Q	+	1	0	PGD	10400053	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	7.683000	0.84093	2.366000	0.80165	0.655000	0.94253	CAA		0.512	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		Missense_Mutation
MAPK8IP1	9479	broad.mit.edu	37	11	45925671	45925671	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr11:45925671A>G	ENST00000241014.2	+	7	1795	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Y532C|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	542	Interaction with VRK2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.Y542C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTTCCTGCCTATTACGCCATC	0.602																																																1	Substitution - Missense(1)	ovary(1)	11											84.0	67.0	73.0					11																	45925671		2203	4299	6502	45882247	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1625A>G	11.37:g.45925671A>G	ENSP00000241014:p.Tyr542Cys	Unknown		x	x	x	45882247	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485060	0.63962	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.48201	0.82;0.82	5.19	5.19	0.71726	Src homology-3 domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	L	0.36672	1.1	0.80722	D	1	P	0.38250	0.624	B	0.37601	0.254	T	0.44757	-0.9307	10	0.66056	D	0.02	-30.3091	15.3348	0.74244	1.0:0.0:0.0:0.0	.	542	Q9UQF2	JIP1_HUMAN	C	542;532	ENSP00000241014:Y542C;ENSP00000378991:Y532C	ENSP00000241014:Y542C	Y	+	2	0	MAPK8IP1	45882247	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.720000	0.47252	2.086000	0.62901	0.459000	0.35465	TAT		0.602	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		Missense_Mutation
MBD6	114785	broad.mit.edu	37	12	57919795	57919795	+	Silent	SNP	C	C	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr12:57919795C>G	ENST00000355673.3	+	6	1400	c.1044C>G	c.(1042-1044)gcC>gcG	p.A348A	MBD6_ENST00000431731.2_Silent_p.A348A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	348	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A348A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGCCCCGTGCCCAGGCACCCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	12											44.0	47.0	46.0					12																	57919795		2203	4300	6503	56206062	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1044C>G	12.37:g.57919795C>G		Unknown		x	x	x	56206062	Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	CCDS8944.1	SNP	22	Broad																																																																																				0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			Silent
OR4N2	390429	broad.mit.edu	37	14	20295920	20295920	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr14:20295920C>T	ENST00000315947.1	+	1	313	c.313C>T	c.(313-315)Cac>Tac	p.H105Y	OR4N2_ENST00000568211.1_Missense_Mutation_p.H105Y	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H105Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTTTCTTGCACTTCCTTGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											109.0	123.0	118.0					14																	20295920		2203	4298	6501	19365760	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.313C>T	14.37:g.20295920C>T	ENSP00000319601:p.His105Tyr	Unknown		x	x	x	19365760	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	.	17.28	3.349661	0.61183	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00547	6.66;6.66	4.53	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.02304	0.0071	M	0.85859	2.78	0.28373	N	0.919929	D	0.89917	1.0	D	0.91635	0.999	T	0.03325	-1.1048	10	0.87932	D	0	-17.4051	11.8403	0.52350	0.1768:0.8232:0.0:0.0	.	105	Q8NGD1	OR4N2_HUMAN	Y	105	ENSP00000452022:H105Y;ENSP00000319601:H105Y	ENSP00000319601:H105Y	H	+	1	0	OR4N2	19365760	0.000000	0.05858	1.000000	0.80357	0.879000	0.50718	-0.219000	0.09228	1.215000	0.43411	0.591000	0.81541	CAC		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			Missense_Mutation
MYH7	4625	broad.mit.edu	37	14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	703	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R703H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGCAGATGCGGATGCCCTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	14											58.0	54.0	56.0					14																	23895227		2203	4300	6503	22965067	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2108G>A	14.37:g.23895227C>T	ENSP00000347507:p.Arg703His	Unknown		x	x	x	22965067	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	36	5.695949	0.96802	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90732	-2.72	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.97198	0.9084	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	D	0.98737	1.0715	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	703	P12883	MYH7_HUMAN	H	703	ENSP00000347507:R703H	ENSP00000347507:R703H	R	-	2	0	MYH7	22965067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.612000	0.88384	0.655000	0.94253	CGC		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		Missense_Mutation
LRFN5	145581	broad.mit.edu	37	14	42356011	42356011	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr14:42356011T>A	ENST00000298119.4	+	3	1372	c.183T>A	c.(181-183)aaT>aaA	p.N61K	LRFN5_ENST00000554171.1_Missense_Mutation_p.N61K|LRFN5_ENST00000554120.1_Missense_Mutation_p.N61K	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	61						integral component of membrane (GO:0016021)		p.N61K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGCAGACAATTTTGTTACAA	0.383										HNSCC(30;0.082)																																						1	Substitution - Missense(1)	ovary(1)	14											57.0	53.0	54.0					14																	42356011		2203	4300	6503	41425761	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.183T>A	14.37:g.42356011T>A	ENSP00000298119:p.Asn61Lys	Unknown		x	x	x	41425761	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	SNP	52	Broad	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921829	0.52653	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.60920	0.15;0.15;0.15	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000011	D	0.83963	0.5368	H	0.97440	4.005	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89340	0.3653	10	0.87932	D	0	.	13.6661	0.62396	0.0:0.0:0.0:1.0	.	61;61	G3V364;Q96NI6	.;LRFN5_HUMAN	K	61	ENSP00000298119:N61K;ENSP00000451897:N61K;ENSP00000451067:N61K	ENSP00000298119:N61K	N	+	3	2	LRFN5	41425761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.650000	0.37292	2.098000	0.63641	0.528000	0.53228	AAT		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		Missense_Mutation
DNAJA3	9093	broad.mit.edu	37	16	4491520	4491520	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr16:4491520G>A	ENST00000262375.6	+	4	651	c.574G>A	c.(574-576)Gag>Aag	p.E192K	DNAJA3_ENST00000355296.4_Missense_Mutation_p.E192K|DNAJA3_ENST00000431375.2_Missense_Mutation_p.E39K	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	192					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.E192K(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GATCTTTGGCGAGTTCTCATC	0.507																																																1	Substitution - Missense(1)	ovary(1)	16											79.0	77.0	78.0					16																	4491520		2197	4300	6497	4431521	SO:0001583	missense	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.574G>A	16.37:g.4491520G>A	ENSP00000262375:p.Glu192Lys	Unknown		x	x	x	4431521	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705343	0.89018	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.72942	-0.7;-0.7;0.94	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.999	D;P;D	0.75484	0.986;0.815;0.91	D	0.86293	0.1675	10	0.72032	D	0.01	-32.6895	19.3278	0.94270	0.0:0.0:1.0:0.0	.	39;192;192	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	K	192;192;39	ENSP00000262375:E192K;ENSP00000347445:E192K;ENSP00000393970:E39K	ENSP00000262375:E192K	E	+	1	0	DNAJA3	4431521	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.804000	0.99143	2.811000	0.96726	0.558000	0.71614	GAG		0.507	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	Unknown		x	x	x	7518264	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
ARHGEF18	23370	broad.mit.edu	37	19	7506889	7506889	+	Silent	SNP	C	C	T	rs143912880	byFrequency	TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr19:7506889C>T	ENST00000359920.6	+	3	1000	c.747C>T	c.(745-747)taC>taT	p.Y249Y	ARHGEF18_ENST00000319670.9_Silent_p.Y91Y|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.T207M	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	249					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y91Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ATGCAGCCTACGCCAAGAAGC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	19						C	,	0,4406		0,0,2203	147.0	155.0	152.0		747,273	-8.2	0.0	19	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARHGEF18	NM_001130955.1,NM_015318.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	249/1174,91/1016	7506889	1,13005	2203	4300	6503	7412889	SO:0001819	synonymous_variant	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.747C>T	19.37:g.7506889C>T		Unknown		x	x	x	7412889	A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	ENST00000359920.6	37	CCDS45946.1	SNP	19	Broad																																																																																				0.567	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		Silent
ZNF324B	388569	broad.mit.edu	37	19	58965677	58965677	+	Silent	SNP	C	C	T			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr19:58965677C>T	ENST00000336614.4	+	3	311	c.204C>T	c.(202-204)acC>acT	p.T68T	ZNF324B_ENST00000545523.1_Silent_p.T68T|ZNF324B_ENST00000594214.1_Silent_p.T68T|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T68T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGACATGACCCTGGCCAGGA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	19											103.0	89.0	94.0					19																	58965677		2203	4300	6503	63657489	SO:0001819	synonymous_variant	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.204C>T	19.37:g.58965677C>T		Unknown		x	x	x	63657489	B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	CCDS33138.1	SNP	22	Broad																																																																																				0.592	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		Silent
TPO	7173	broad.mit.edu	37	2	1488400	1488400	+	Silent	SNP	C	C	T			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr2:1488400C>T	ENST00000345913.4	+	9	1462	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	TPO_ENST00000337415.3_Silent_p.I457I|TPO_ENST00000349624.3_Silent_p.I284I|TPO_ENST00000346956.3_Silent_p.I457I|TPO_ENST00000329066.4_Silent_p.I457I|TPO_ENST00000382201.3_Silent_p.I457I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.I284I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	457					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.I457I(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCCCCAGGATCCTGGGACCCG	0.592																																																2	Substitution - coding silent(2)	ovary(1)|skin(1)	2											61.0	56.0	58.0					2																	1488400		2203	4300	6503	1467407	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1371C>T	2.37:g.1488400C>T		Unknown		x	x	x	1467407	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	c	2.449	-0.326771	0.05350	.	.	ENSG00000115705	ENST00000536482	.	.	.	5.3	1.29	0.21616	.	.	.	.	.	T	0.40595	0.1123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09058	-1.0692	5	0.20046	T	0.44	-27.5985	4.6002	0.12350	0.1417:0.5597:0.0:0.2986	.	.	.	.	S	141	.	ENSP00000439133:P141S	P	+	1	0	TPO	1467407	0.409000	0.25368	0.787000	0.31911	0.179000	0.23085	-0.099000	0.11007	0.240000	0.21263	0.556000	0.70494	CCT		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		Silent
SDC1	6382	broad.mit.edu	37	2	20403741	20403741	+	Missense_Mutation	SNP	G	G	A	rs145688161	byFrequency	TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr2:20403741G>A	ENST00000254351.4	-	3	704	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	SDC1_ENST00000381150.1_Missense_Mutation_p.H154Y|SDC1_ENST00000403076.1_Missense_Mutation_p.H154Y|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	154					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.H154Y(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		ATGTCCCTGTGGGGGTGGGAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	2											87.0	86.0	86.0					2																	20403741		2203	4300	6503	20267222	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.460C>T	2.37:g.20403741G>A	ENSP00000254351:p.His154Tyr	Unknown		x	x	x	20267222	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118788	0.20877	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.35048	2.3;2.3;1.33;1.43	3.87	3.87	0.44632	.	0.476710	0.19395	N	0.115308	T	0.50633	0.1627	M	0.73962	2.25	0.18873	N	0.999981	D;D	0.59767	0.986;0.971	P;P	0.54629	0.757;0.693	T	0.45352	-0.9267	10	0.87932	D	0	-8.6825	11.6253	0.51142	0.0:0.0:1.0:0.0	.	154;154	E9PHH3;P18827	.;SDC1_HUMAN	Y	154;154;154;162	ENSP00000254351:H154Y;ENSP00000370542:H154Y;ENSP00000384613:H154Y;ENSP00000400773:H162Y	ENSP00000254351:H154Y	H	-	1	0	SDC1	20267222	0.889000	0.30405	0.243000	0.24186	0.080000	0.17528	1.295000	0.33377	2.456000	0.83038	0.561000	0.74099	CAC		0.667	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		Missense_Mutation
PTCD3	55037	broad.mit.edu	37	2	86352130	86352130	+	Silent	SNP	C	C	T	rs75290041		TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr2:86352130C>T	ENST00000254630.7	+	10	795	c.729C>T	c.(727-729)aaC>aaT	p.N243N	PTCD3_ENST00000409277.3_Missense_Mutation_p.T202M	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	243					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.N243N(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CAAAAAACAACGCTGAGAGAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	2											92.0	88.0	89.0					2																	86352130		2203	4300	6503	86205641	SO:0001819	synonymous_variant	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.729C>T	2.37:g.86352130C>T		Unknown		x	x	x	86205641	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	ENST00000254630.7	37	CCDS33235.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363985	0.24684	.	.	ENSG00000132300	ENST00000409277	T	0.52754	0.65	5.63	0.486	0.16836	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.23070	N	0.998347	.	.	.	.	.	.	T	0.45556	-0.9253	6	0.66056	D	0.02	-16.5611	9.7682	0.40574	0.0:0.3615:0.0:0.6385	.	.	.	.	M	202	ENSP00000386462:T202M	ENSP00000386462:T202M	T	+	2	0	PTCD3	86205641	0.998000	0.40836	0.995000	0.50966	0.426000	0.31534	0.290000	0.18975	-0.128000	0.11641	-1.004000	0.02495	ACG		0.358	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		Silent
SGOL2	151246	broad.mit.edu	37	2	201437638	201437638	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr2:201437638C>G	ENST00000357799.4	+	7	2667	c.2569C>G	c.(2569-2571)Caa>Gaa	p.Q857E		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	857					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.Q857E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAAATCTACAAGTCACAAA	0.303																																																1	Substitution - Missense(1)	ovary(1)	2											86.0	84.0	85.0					2																	201437638		1806	4066	5872	201145883	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2569C>G	2.37:g.201437638C>G	ENSP00000350447:p.Gln857Glu	Unknown		x	x	x	201145883	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.109550	0.00032	.	.	ENSG00000163535	ENST00000357799	T	0.09073	3.02	4.7	0.634	0.17718	.	0.599027	0.13993	N	0.348642	T	0.02193	0.0068	N	0.02011	-0.69	0.19575	N	0.999969	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.45934	-0.9227	10	0.02654	T	1	-0.3583	5.8249	0.18548	0.2221:0.2772:0.5007:0.0	.	857;857;857	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	E	857	ENSP00000350447:Q857E	ENSP00000350447:Q857E	Q	+	1	0	SGOL2	201145883	0.025000	0.19082	0.002000	0.10522	0.048000	0.14542	0.134000	0.15932	0.003000	0.14656	0.585000	0.79938	CAA		0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		Missense_Mutation
IQCA1	79781	broad.mit.edu	37	2	237395522	237395522	+	Missense_Mutation	SNP	G	G	A	rs370868790	byFrequency	TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr2:237395522G>A	ENST00000409907.3	-	5	944	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	IQCA1_ENST00000309507.5_Missense_Mutation_p.R220C|IQCA1_ENST00000431676.2_Missense_Mutation_p.R224C	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	224	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.						ATP binding (GO:0005524)	p.R231C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTTTCCTTACGTTGATGGAAA	0.328													A|||	2	0.000399361	0.0	0.0	5008	,	,		20023	0.0		0.0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	2						A	CYS/ARG	1,3635		0,1,1817	63.0	58.0	59.0		670	-1.2	0.0	2		59	0,8166		0,0,4083	no	missense	IQCA1	NM_024726.3	180	0,1,5900	AA,AG,GG		0.0,0.0275,0.0085	benign	224/823	237395522	1,11801	1818	4083	5901	237060261	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.670C>T	2.37:g.237395522G>A	ENSP00000387347:p.Arg224Cys	Unknown		x	x	x	237060261	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	SNP	40	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.41|10.41	1.343306|1.343306	0.24339|0.24339	2.75E-4|2.75E-4	0.0|0.0	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.95980|.	-3.71;-3.71;-3.87|.	5.23|5.23	-1.23|-1.23	0.09465|0.09465	.|.	2.136540|.	0.01636|.	N|.	0.023791|.	T|T	0.19927|0.19927	0.0479|0.0479	N|N	0.20574|0.20574	0.59|0.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.26547|.	0.066;0.019;0.152|.	B;B;B|.	0.24974|.	0.035;0.009;0.057|.	T|T	0.27606|0.27606	-1.0069|-1.0069	10|5	0.42905|.	T|.	0.14|.	.|.	4.7216|4.7216	0.12920|0.12920	0.4703:0.0:0.2144:0.3153|0.4703:0.0:0.2144:0.3153	.|.	224;231;224|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	C|M	224;231;220;224;220|242	ENSP00000387347:R224C;ENSP00000311951:R220C;ENSP00000407213:R224C|.	ENSP00000254653:R224C|.	R|T	-|-	1|2	0|0	IQCA1|IQCA1	237060261|237060261	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.284000|-0.284000	0.08422|0.08422	-0.413000|-0.413000	0.07507|0.07507	-0.254000|-0.254000	0.11334|0.11334	CGT|ACG		0.328	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		Missense_Mutation
SH3D19	152503	broad.mit.edu	37	4	152048856	152048856	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr4:152048856T>G	ENST00000409252.2	-	19	2877	c.2170A>C	c.(2170-2172)Agt>Cgt	p.S724R	SH3D19_ENST00000427414.2_Missense_Mutation_p.S665R|SH3D19_ENST00000409598.4_Missense_Mutation_p.S701R|SH3D19_ENST00000514152.1_Missense_Mutation_p.S701R|SH3D19_ENST00000304527.4_Missense_Mutation_p.S724R|SH3D19_ENST00000424281.1_Missense_Mutation_p.S665R|SH3D19_ENST00000455740.1_Missense_Mutation_p.S701R			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	724					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.S721R(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAACATACTTTTTGCCTCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											58.0	53.0	55.0					4																	152048856		2203	4300	6503	152268306	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2170A>C	4.37:g.152048856T>G	ENSP00000386848:p.Ser724Arg	Unknown		x	x	x	152268306	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885319	0.33255	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.84	0.341	0.15991	.	1.304020	0.04837	N	0.439788	T	0.21801	0.0525	L	0.45285	1.41	0.09310	N	1	B;B;B;B	0.29909	0.009;0.261;0.015;0.009	B;B;B;B	0.30105	0.009;0.111;0.043;0.005	T	0.20174	-1.0283	10	0.15499	T	0.54	0.7575	1.4112	0.02292	0.1196:0.239:0.2716:0.3698	.	724;701;665;479	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	R	701;724;701;665;665;724;701	ENSP00000387030:S701R;ENSP00000302913:S724R;ENSP00000416708:S701R;ENSP00000404542:S665R;ENSP00000415694:S665R;ENSP00000386848:S724R;ENSP00000423449:S701R	ENSP00000302913:S724R	S	-	1	0	SH3D19	152268306	0.003000	0.15002	0.196000	0.23383	0.800000	0.45204	-0.168000	0.09925	0.435000	0.26365	0.482000	0.46254	AGT		0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		Missense_Mutation
THBS2	7058	broad.mit.edu	37	6	169650827	169650827	+	Splice_Site	SNP	C	C	T			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr6:169650827C>T	ENST00000366787.3	-	3	302		c.e3+1			NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2						cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.?(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGGACACTCACCTTGCGTGCT	0.542																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Unknown(1)	ovary(1)	6											58.0	49.0	52.0					6																	169650827		2203	4300	6503	169392752	SO:0001630	splice_region_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.52+1G>A	6.37:g.169650827C>T		Unknown		x	x	x	169392752	A6H8N1|A7E232|Q5RI52	Splice_Site_SNP	SNP	ENST00000366787.3	37	CCDS34574.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879802	0.33162	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3763	0.60741	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THBS2	169392752	1.000000	0.71417	0.997000	0.53966	0.313000	0.28021	3.140000	0.50585	2.515000	0.84797	0.655000	0.94253	.		0.542	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	Intron	Splice_Site_SNP
GPR141	353345	broad.mit.edu	37	7	37780909	37780909	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr7:37780909G>A	ENST00000447769.1	+	4	1203	c.914G>A	c.(913-915)cGt>cAt	p.R305H	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R305H			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R305L(2)|p.R305H(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTTGTGCCGTTAGCCACAA	0.363																																																3	Substitution - Missense(3)	ovary(1)|prostate(1)|endometrium(1)	7											59.0	57.0	58.0					7																	37780909		2203	4300	6503	37747434	SO:0001583	missense	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.914G>A	7.37:g.37780909G>A	ENSP00000390410:p.Arg305His	Unknown		x	x	x	37747434	A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	CCDS5451.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664563	0.29604	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.19806	2.12;2.12	5.2	-3.2	0.05156	.	1.171940	0.06092	N	0.663753	T	0.13500	0.0327	N	0.16478	0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33879	-0.9851	10	0.31617	T	0.26	.	12.685	0.56942	0.6984:0.0:0.3016:0.0	.	305	Q7Z602	GP141_HUMAN	H	305	ENSP00000390410:R305H;ENSP00000334540:R305H	ENSP00000334540:R305H	R	+	2	0	GPR141	37747434	0.049000	0.20398	0.015000	0.15790	0.137000	0.21094	-0.041000	0.12084	-0.768000	0.04626	0.655000	0.94253	CGT		0.363	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		Missense_Mutation
PCM1	5108	broad.mit.edu	37	8	17872112	17872112	+	Silent	SNP	T	T	C			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr8:17872112T>C	ENST00000519253.1	+	36	5831	c.5580T>C	c.(5578-5580)ccT>ccC	p.P1860P	PCM1_ENST00000325083.8_Silent_p.P1868P|PCM1_ENST00000327578.8_Silent_p.P567P|PCM1_ENST00000524226.1_Intron			Q15154	PCM1_HUMAN	pericentriolar material 1	1868				PLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120). {ECO:0000305}.	centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.P1868P(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATAACTGTCCTGTGAAACCCT	0.348			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	1	Substitution - coding silent(1)	ovary(1)	8											87.0	82.0	84.0					8																	17872112		1853	4091	5944	17916392	SO:0001819	synonymous_variant	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5580T>C	8.37:g.17872112T>C		Unknown		x	x	x	17916392	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37		SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	9.066	0.995798	0.19043	.	.	ENSG00000078674	ENST00000522275	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	T	0.61451	0.2348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59888	-0.7369	4	.	.	.	-18.7573	10.2813	0.43541	0.1566:0.0:0.0:0.8434	.	.	.	.	P	608	.	.	L	+	2	0	PCM1	17916392	0.992000	0.36948	1.000000	0.80357	0.986000	0.74619	0.791000	0.26915	2.371000	0.80710	0.533000	0.62120	CTG		0.348	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		Silent
C8orf58	541565	broad.mit.edu	37	8	22458465	22458465	+	Silent	SNP	C	C	A	rs200708476		TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr8:22458465C>A	ENST00000289989.5	+	2	185	c.111C>A	c.(109-111)ccC>ccA	p.P37P	AC037459.4_ENST00000430850.2_3'UTR|C8orf58_ENST00000409586.3_Silent_p.P37P|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	37								p.P37P(1)		endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GACGGATCCCCGACGCTGCCC	0.642																																																1	Substitution - coding silent(1)	ovary(1)	8											34.0	37.0	36.0					8																	22458465		2202	4297	6499	22514410	SO:0001819	synonymous_variant	541565			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.111C>A	8.37:g.22458465C>A		Unknown		x	x	x	22514410	B4DI44	Silent	SNP	ENST00000289989.5	37	CCDS34862.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	c	7.169	0.587245	0.13812	.	.	ENSG00000248235	ENST00000447849	T	0.37058	1.22	4.63	-9.04	0.00734	.	0.558807	0.15291	N	0.270168	T	0.25754	0.0627	.	.	.	0.22989	N	0.998465	.	.	.	.	.	.	T	0.21895	-1.0232	7	0.87932	D	0	-10.5413	3.5802	0.07949	0.4732:0.3032:0.1222:0.1014	.	.	.	.	Q	129	ENSP00000429988:P129Q	ENSP00000429988:P129Q	P	+	2	0	AC037459.4	22514410	0.000000	0.05858	0.004000	0.12327	0.111000	0.19643	-4.115000	0.00292	-1.726000	0.01370	-1.621000	0.00791	CCG		0.642	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		Silent
VPS13B	157680	broad.mit.edu	37	8	100866458	100866458	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr8:100866458A>G	ENST00000358544.2	+	56	11027	c.10916A>G	c.(10915-10917)tAt>tGt	p.Y3639C	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Y3614C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3639					protein transport (GO:0015031)			p.Y3639C(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAATGCACTATGCCGCTGGG	0.552																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											62.0	53.0	56.0					8																	100866458		2203	4300	6503	100935634	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10916A>G	8.37:g.100866458A>G	ENSP00000351346:p.Tyr3639Cys	Unknown		x	x	x	100935634	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041915	0.75732	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.88975	-2.43;-2.45	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.85130	0.761;0.997	D	0.94947	0.8096	10	0.87932	D	0	.	15.618	0.76784	1.0:0.0:0.0:0.0	.	3614;3639	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	C	3614;3639	ENSP00000349685:Y3614C;ENSP00000351346:Y3639C	ENSP00000349685:Y3614C	Y	+	2	0	VPS13B	100935634	1.000000	0.71417	0.979000	0.43373	0.915000	0.54546	8.701000	0.91331	2.073000	0.62155	0.528000	0.53228	TAT		0.552	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		Missense_Mutation
DEPTOR	64798	broad.mit.edu	37	8	120886193	120886193	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr8:120886193C>G	ENST00000286234.5	+	1	237	c.107C>G	c.(106-108)aCc>aGc	p.T36S	KB-1471A8.1_ENST00000500705.3_lincRNA|DEPTOR_ENST00000523492.1_Missense_Mutation_p.T36S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	36	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.T36S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GTCTTGGTCACCGGGGAACAG	0.682																																																1	Substitution - Missense(1)	ovary(1)	8											119.0	93.0	101.0					8																	120886193		2203	4300	6503	120955374	SO:0001583	missense	64798				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.107C>G	8.37:g.120886193C>G	ENSP00000286234:p.Thr36Ser	Unknown		x	x	x	120955374	B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	CCDS6331.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208901	0.58343	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.23348	1.91;1.91	4.81	4.81	0.61882	DEP domain (1);	0.100481	0.64402	D	0.000002	T	0.19127	0.0459	L	0.36672	1.1	0.50313	D	0.999863	B;B	0.20164	0.002;0.042	B;B	0.16289	0.0;0.015	T	0.04203	-1.0969	10	0.11794	T	0.64	-9.021	13.5699	0.61841	0.0:1.0:0.0:0.0	.	36;36	E7EV87;Q8TB45	.;DPTOR_HUMAN	S	36	ENSP00000430457:T36S;ENSP00000286234:T36S	ENSP00000286234:T36S	T	+	2	0	DEPTOR	120955374	0.999000	0.42202	0.993000	0.49108	0.964000	0.63967	4.101000	0.57769	2.669000	0.90835	0.491000	0.48974	ACC		0.682	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		Missense_Mutation
S1PR3	1903	broad.mit.edu	37	9	91616533	91616533	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr9:91616533A>G	ENST00000375846.3	+	1	5113	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	S1PR3_ENST00000358157.2_Missense_Mutation_p.M140V			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	140					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.M140V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GCACTTGACAATGATCAAAAT	0.607											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	9											123.0	95.0	105.0					9																	91616533		2203	4300	6503	90806353	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.418A>G	9.37:g.91616533A>G	ENSP00000365006:p.Met140Val	Unknown	1283	x	x	x	90806353	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533113	0.64972	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.64260	-0.09;-0.09	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	N	0.19112	0.55	0.58432	D	0.999998	D	0.63046	0.992	D	0.76071	0.987	T	0.65788	-0.6083	10	0.33940	T	0.23	.	14.9483	0.71050	1.0:0.0:0.0:0.0	.	140	Q99500	S1PR3_HUMAN	V	140	ENSP00000350878:M140V;ENSP00000365006:M140V	ENSP00000350878:M140V	M	+	1	0	S1PR3	90806353	1.000000	0.71417	0.982000	0.44146	0.832000	0.47134	8.971000	0.93419	2.117000	0.64856	0.459000	0.35465	ATG		0.607	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		Missense_Mutation
HABP4	22927	broad.mit.edu	37	9	99220728	99220728	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr9:99220728G>A	ENST00000375249.4	+	2	492	c.417G>A	c.(415-417)atG>atA	p.M139I	HABP4_ENST00000375251.3_Missense_Mutation_p.M139I	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.M139I(1)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGGAGGGGATGCTCGAAAGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	9											96.0	96.0	96.0					9																	99220728		2203	4300	6503	98260549	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.417G>A	9.37:g.99220728G>A	ENSP00000364398:p.Met139Ile	Unknown		x	x	x	98260549		Missense_Mutation	SNP	ENST00000375249.4	37	CCDS6719.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	2.407	-0.336304	0.05278	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.29397	1.57;1.61	4.58	-8.46	0.00942	.	0.889945	0.09876	N	0.744274	T	0.10035	0.0246	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29027	-1.0025	10	0.38643	T	0.18	2.664	7.0343	0.24985	0.6301:0.0882:0.1935:0.0883	.	139;139	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	I	139	ENSP00000364400:M139I;ENSP00000364398:M139I	ENSP00000364398:M139I	M	+	3	0	HABP4	98260549	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.969000	0.03813	-2.013000	0.00949	-1.339000	0.01253	ATG		0.532	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		Missense_Mutation
OR1L1	26737	broad.mit.edu	37	9	125424243	125424243	+	Silent	SNP	G	G	A			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr9:125424243G>A	ENST00000373686.1	+	1	399	c.399G>A	c.(397-399)gtG>gtA	p.V133V	OR1L1_ENST00000309623.1_Silent_p.V83V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V133V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGATGCTGGTGAACTTCTTAT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	9											194.0	188.0	190.0					9																	125424243		2203	4300	6503	124464064	SO:0001819	synonymous_variant	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.399G>A	9.37:g.125424243G>A		Unknown		x	x	x	124464064	Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37		SNP	45	Broad																																																																																				0.438	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				Silent
ENG	2022	broad.mit.edu	37	9	130587574	130587574	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr9:130587574A>G	ENST00000373203.4	-	6	1152	c.752T>C	c.(751-753)cTc>cCc	p.L251P	ENG_ENST00000344849.3_Missense_Mutation_p.L251P|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'Flank	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	251	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L251P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CTGCAGGATGAGGACGGCATC	0.632									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																																							1	Substitution - Missense(1)	ovary(1)	9											74.0	58.0	63.0					9																	130587574		2203	4300	6503	129627395	SO:0001583	missense	2022	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.752T>C	9.37:g.130587574A>G	ENSP00000362299:p.Leu251Pro	Unknown		x	x	x	129627395	Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	CCDS48029.1	SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	a	14.86	2.661207	0.47572	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.74209	-0.82;-0.37	4.58	4.58	0.56647	.	0.000000	0.49305	D	0.000142	D	0.84460	0.5477	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86237	0.1641	10	0.87932	D	0	-27.5516	11.8685	0.52507	1.0:0.0:0.0:0.0	.	251;251	Q5T9B9;P17813	.;EGLN_HUMAN	P	251;251;251;69	ENSP00000362299:L251P;ENSP00000341917:L251P	ENSP00000341917:L251P	L	-	2	0	ENG	129627395	1.000000	0.71417	0.994000	0.49952	0.008000	0.06430	4.651000	0.61447	1.939000	0.56221	0.445000	0.29226	CTC		0.632	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			Missense_Mutation
APOB	338	broad.mit.edu	37	2	21225955	21225979	+	Frame_Shift_Del	DEL	CTCAGCATTGTTCTGCAGATTTCTT	CTCAGCATTGTTCTGCAGATTTCTT	-	rs368399716|rs375795401		TCGA-25-2409-01	TCGA-25-2409-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2409-01	TCGA-25-2409-10	g.chr2:21225955_21225979delCTCAGCATTGTTCTGCAGATTTCTT	ENST00000233242.1	-	29	12442_12466	c.12315_12339delAAGAAATCTGCAGAACAATGCTGAG	c.(12313-12339)agaagaaatctgcagaacaatgctgagfs	p.RRNLQNNAE4105fs	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4105					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R4105fs*16(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTG	0.498																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								21079484	SO:0001589	frameshift_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12315_12339delAAGAAATCTGCAGAACAATGCTGAG	2.37:g.21225955_21225979delCTCAGCATTGTTCTGCAGATTTCTT	ENSP00000233242:p.Arg4105fs	Unknown		Capture	Illumina GAIIx	Phase_I	21079460	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	CCDS1703.1	DEL	20	Broad																																																																																				0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			Frame_Shift_Del
