#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_BAM_File	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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AIP	9049	genome.wustl.edu	37	11	67254510	67254510	+	Missense_Mutation	SNP	G	G	A	rs574205552		TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr11:67254510G>A	ENST00000279146.3	+	2	251	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	45	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)	p.D45N(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						GCACAGTGACGACGAGGGCAC	0.617									Familial Isolated Pituitary Adenoma				G|||	1	0.000199681	0.0008	0.0	5008	,	,		20091	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	skin(1)											121.0	106.0	111.0					11																	67254510		2200	4295	6495	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.133G>A	11.37:g.67254510G>A	ENSP00000279146:p.Asp45Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.D45N	ENST00000279146.3	37	c.133	CCDS8168.1	11	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317957	0.23994	.	.	ENSG00000110711	ENST00000528641;ENST00000279146;ENST00000529797	D;D;D	0.86164	-2.08;-2.08;-2.08	5.22	-10.4	0.00318	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	2.855620	0.01053	N	0.004519	T	0.77329	0.4114	L	0.33339	1.005	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.63440	-0.6637	10	0.45353	T	0.12	0.6276	7.4032	0.26975	0.1065:0.2688:0.536:0.0887	.	45	O00170	AIP_HUMAN	N	45	ENSP00000434982:D45N;ENSP00000279146:D45N;ENSP00000434580:D45N	ENSP00000279146:D45N	D	+	1	0	AIP	67011086	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-1.057000	0.03486	-2.524000	0.00495	-1.855000	0.00564	GAC	AIP	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000110711		0.617	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIP	HGNC	protein_coding	OTTHUMT00000395516.1	34	0.00	0	G			67254510	67254510	+1	no_errors	ENST00000279146	ensembl	human	known	69_37n	missense	80	12.09	11	SNP	0.000	A
ASH1L	55870	genome.wustl.edu	37	1	155531968	155531968	+	5'UTR	SNP	C	C	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr1:155531968C>T	ENST00000368346.3	-	0	516				ASH1L_ENST00000548830.1_5'UTR|ASH1L-AS1_ENST00000452809.1_RNA|ASH1L_ENST00000392403.3_5'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)						cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGCCGAGGCCGAGAGCGATG	0.657																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.-124G>A	1.37:g.155531968C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	RNA	SNP	-	NULL	ENST00000368346.3	37	NULL		1																																																																																			ASH1L-AS1	-	-	ENSG00000235919		0.657	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L-AS1	HGNC	protein_coding	OTTHUMT00000039400.1	23	0.00	0	C	NM_018489		155531968	155531968	+1	no_errors	ENST00000452809	ensembl	human	known	69_37n	rna	18	53.85	21	SNP	0.995	T
ATP2A1	487	genome.wustl.edu	37	16	28913639	28913640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr16:28913639_28913640insC	ENST00000357084.3	+	17	2723_2724	c.2456_2457insC	c.(2455-2460)cgccccfs	p.RP819fs	ATP2A1_ENST00000395503.4_Frame_Shift_Ins_p.RP819fs|ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.RP694fs	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	819					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2464dupC	16.37:g.28913647_28913647dupC	ENSP00000349595:p.Arg819fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5J9|B3KY17|O14984	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R822fs	ENST00000357084.3	37	c.2456_2457	CCDS10643.1	16																																																																																			ATP2A1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000196296		0.658	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	29	0.00	0	-	NM_004320		28913639	28913640	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	frame_shift_ins	33	15.38	6	INS	0.996:0.957	C
ATP2B1	490	genome.wustl.edu	37	12	89998003	89998003	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr12:89998003A>G	ENST00000428670.3	-	16	3019	c.2563T>C	c.(2563-2565)Ttc>Ctc	p.F855L	ATP2B1_ENST00000393164.2_Missense_Mutation_p.F598L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.F855L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.F855L|ATP2B1_ENST00000261173.2_Missense_Mutation_p.F855L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	855					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AACTGAAGGAATTTTGAGATG	0.388																																						dbGAP											0													117.0	111.0	113.0					12																	89998003		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2563T>C	12.37:g.89998003A>G	ENSP00000392043:p.Phe855Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.F855L	ENST00000428670.3	37	c.2563	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	A	33	5.225241	0.95173	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.998	D	0.99712	1.1007	10	0.87932	D	0	-28.284	16.3634	0.83296	1.0:0.0:0.0:0.0	.	855;855;855	P20020-3;P20020-2;P20020-6	.;.;.	L	855;855;855;855;598	ENSP00000261173:F855L;ENSP00000343599:F855L;ENSP00000352054:F855L;ENSP00000392043:F855L;ENSP00000376869:F598L	ENSP00000261173:F855L	F	-	1	0	ATP2B1	88522134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.324000	0.78689	0.533000	0.62120	TTC	ATP2B1	-	tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000070961		0.388	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	172	0.00	0	A	NM_001682		89998003	89998003	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	190	33.80	97	SNP	1.000	G
GAS8	2622	genome.wustl.edu	37	16	90095596	90095596	+	Intron	SNP	A	A	G	rs55742939	byFrequency	TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr16:90095596A>G	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.I52T|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcc	0.662													a|||	2317	0.46266	0.3767	0.4611	5008	,	,		15261	0.63		0.3757	False		,,,				2504	0.4969					dbGAP											0													20.0	22.0	22.0					16																	90095596		2196	4299	6495	-	-	-	SO:0001627	intron_variant	0			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1466A>G	16.37:g.90095596A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	NULL	p.I52T	ENST00000268699.4	37	c.155	CCDS10992.1	16	.	.	.	.	.	.	.	.	.	.	a	0.042	-1.279284	0.01410	.	.	ENSG00000221819	ENST00000408886	T	0.51817	0.69	.	.	.	.	.	.	.	.	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	6	.	.	.	.	.	.	.	rs55742939	60	O95177	CP003_HUMAN	T	52	ENSP00000386218:I52T	.	I	-	2	0	C16orf3	88623097	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	-1.935000	0.01550	-2.550000	0.00480	-1.973000	0.00462	ATA	C16orf3	-	NULL	ENSG00000221819		0.662	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf3	HGNC	protein_coding	OTTHUMT00000272877.2	12	0.00	0	A			90095596	90095596	-1	no_errors	ENST00000408886	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.000	G
C5orf42	65250	genome.wustl.edu	37	5	37158402	37158402	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr5:37158402T>A	ENST00000508244.1	-	38	7829	c.7736A>T	c.(7735-7737)tAt>tTt	p.Y2579F	C5orf42_ENST00000274258.7_Missense_Mutation_p.Y1459F|C5orf42_ENST00000425232.2_Missense_Mutation_p.Y2579F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2579						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGATTTAGATAGACATCTGG	0.368																																						dbGAP											0													109.0	105.0	106.0					5																	37158402		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7736A>T	5.37:g.37158402T>A	ENSP00000421690:p.Tyr2579Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.Y2579F	ENST00000508244.1	37	c.7736	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	T	0.864	-0.734253	0.03111	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.23348	1.91;1.91;1.99;2.0	5.58	0.0546	0.14311	.	0.321942	0.22808	N	0.055391	T	0.14013	0.0339	L	0.29908	0.895	0.20563	N	0.999888	B;B	0.19583	0.037;0.037	B;B	0.26202	0.039;0.067	T	0.19844	-1.0293	10	0.23302	T	0.38	.	3.3783	0.07246	0.2818:0.1636:0.0:0.5546	.	2579;1459	E9PH94;Q9H799	.;CE042_HUMAN	F	2579;2579;1459;1627;1459	ENSP00000421690:Y2579F;ENSP00000389014:Y2579F;ENSP00000274258:Y1459F;ENSP00000424223:Y1627F	ENSP00000274258:Y1459F	Y	-	2	0	C5orf42	37194159	0.177000	0.23109	0.012000	0.15200	0.487000	0.33371	-0.218000	0.09240	0.058000	0.16222	0.533000	0.62120	TAT	C5orf42	-	NULL	ENSG00000197603		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	273	0.00	0	T	NM_023073		37158402	37158402	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	256	24.71	84	SNP	0.404	A
C5orf42	65250	genome.wustl.edu	37	5	37169279	37169279	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr5:37169279G>A	ENST00000508244.1	-	33	6940	c.6847C>T	c.(6847-6849)Cat>Tat	p.H2283Y	C5orf42_ENST00000274258.7_Missense_Mutation_p.H1163Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.H2283Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2283						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACATTCAAATGGGATGCTGGA	0.453																																						dbGAP											0													106.0	105.0	105.0					5																	37169279		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6847C>T	5.37:g.37169279G>A	ENSP00000421690:p.His2283Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.H2283Y	ENST00000508244.1	37	c.6847	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399612	0.42512	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27402	1.7;1.7;1.67;1.67	5.53	4.64	0.57946	.	0.696787	0.12525	N	0.461288	T	0.43612	0.1255	L	0.52573	1.65	0.09310	N	1	D;D	0.59767	0.986;0.986	P;P	0.54174	0.656;0.744	T	0.30880	-0.9963	10	0.59425	D	0.04	.	14.4271	0.67222	0.0:0.2784:0.7216:0.0	.	2283;1163	E9PH94;Q9H799	.;CE042_HUMAN	Y	2283;2283;1163;1331;1163	ENSP00000421690:H2283Y;ENSP00000389014:H2283Y;ENSP00000274258:H1163Y;ENSP00000424223:H1331Y	ENSP00000274258:H1163Y	H	-	1	0	C5orf42	37205036	0.796000	0.28864	0.002000	0.10522	0.124000	0.20399	1.780000	0.38634	1.264000	0.44198	0.655000	0.94253	CAT	C5orf42	-	NULL	ENSG00000197603		0.453	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	165	0.00	0	G	NM_023073		37169279	37169279	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	178	29.08	73	SNP	0.020	A
CDH4	1002	genome.wustl.edu	37	20	60419757	60419757	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr20:60419757C>T	ENST00000360469.5	+	5	698	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	CDH4_ENST00000543233.1_Missense_Mutation_p.R130W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	204	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATCCCCATCCGGTACAGCAT	0.607																																						dbGAP											0													93.0	80.0	84.0					20																	60419757		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.610C>T	20.37:g.60419757C>T	ENSP00000353656:p.Arg204Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.R204W	ENST00000360469.5	37	c.610	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180974	0.38511	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	3.68	3.68	0.42216	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	M	0.89904	3.07	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.80346	-0.1421	9	.	.	.	.	11.9509	0.52954	0.1865:0.8135:0.0:0.0	.	204	P55283	CADH4_HUMAN	W	204;112;130	ENSP00000353656:R204W;ENSP00000443301:R130W	.	R	+	1	2	CDH4	59853152	1.000000	0.71417	0.984000	0.44739	0.138000	0.21146	3.057000	0.49931	1.753000	0.51906	0.313000	0.20887	CGG	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	40	0.00	0	C	NM_001794		60419757	60419757	+1	no_errors	ENST00000360469	ensembl	human	known	69_37n	missense	36	35.71	20	SNP	1.000	T
DAB2IP	153090	genome.wustl.edu	37	9	124528882	124528882	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr9:124528882C>T	ENST00000408936.3	+	9	1752	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R496C|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R400C			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	524	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCTTCCTGCGCTTCCTCTG	0.632																																						dbGAP											0													129.0	109.0	116.0					9																	124528882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1570C>T	9.37:g.124528882C>T	ENSP00000386183:p.Arg524Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.R524C	ENST00000408936.3	37	c.1570		9	.	.	.	.	.	.	.	.	.	.	C	29.8	5.032746	0.93575	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85623	0.1265	10	0.87932	D	0	.	16.7648	0.85521	0.0:1.0:0.0:0.0	.	496	G3XA90	.	C	496;524;433;400	ENSP00000259371:R496C;ENSP00000386183:R524C;ENSP00000362887:R433C;ENSP00000310827:R400C	ENSP00000259371:R496C	R	+	1	0	DAB2IP	123568703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.252000	0.74401	0.650000	0.86243	CGC	DAB2IP	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000136848		0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	46	0.00	0	C	NM_032552		124528882	124528882	+1	no_errors	ENST00000408936	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	1.000	T
DNAH17	8632	genome.wustl.edu	37	17	76487632	76487632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr17:76487632G>A	ENST00000585328.1	-	43	6671	c.6547C>T	c.(6547-6549)Cga>Tga	p.R2183*	RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.R2174*	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2174	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCAGGTCTCGCATGATGGTG	0.607																																						dbGAP											0													108.0	115.0	113.0					17																	76487632		2065	4229	6294	-	-	-	SO:0001587	stop_gained	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6547C>T	17.37:g.76487632G>A	ENSP00000465516:p.Arg2183*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.R2174*	ENST00000585328.1	37	c.6520		17	.	.	.	.	.	.	.	.	.	.	g	48	14.842400	0.99812	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.7	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3433	0.60557	0.0:0.0:0.7122:0.2878	.	.	.	.	X	2183;2174	.	ENSP00000300671:R2183X	R	-	1	2	DNAH17	73999227	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.969000	0.40510	0.388000	0.25054	-0.485000	0.04761	CGA	DNAH17	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000187775		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	110	0.00	0	G	NM_173628		76487632	76487632	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	nonsense	152	29.63	64	SNP	1.000	A
DNAJB13	374407	genome.wustl.edu	37	11	73680349	73680349	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr11:73680349C>G	ENST00000339764.1	+	7	1530	c.779C>G	c.(778-780)cCc>cGc	p.P260R	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Missense_Mutation_p.P85R|DNAJB13_ENST00000543947.1_Missense_Mutation_p.P85R	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	260					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTCAACATCCCCATCAATGAC	0.587																																						dbGAP											0													221.0	144.0	170.0					11																	73680349		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.779C>G	11.37:g.73680349C>G	ENSP00000344431:p.Pro260Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3LEP4|Q8IZW5	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.P260R	ENST00000339764.1	37	c.779	CCDS8227.1	11	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267576	0.80469	.	.	ENSG00000187726	ENST00000339764;ENST00000537753;ENST00000543947	T;T;T	0.39592	1.07;1.07;1.07	5.32	5.32	0.75619	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59118	-0.7514	9	.	.	.	.	17.6131	0.88060	0.0:1.0:0.0:0.0	.	260	P59910	DJB13_HUMAN	R	260;85;85	ENSP00000344431:P260R;ENSP00000439711:P85R;ENSP00000438576:P85R	.	P	+	2	0	DNAJB13	73357997	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.398000	0.66308	2.506000	0.84524	0.485000	0.47835	CCC	DNAJB13	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000187726		0.587	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB13	HGNC	protein_coding	OTTHUMT00000398100.1	79	0.00	0	C	NM_153614		73680349	73680349	+1	no_errors	ENST00000339764	ensembl	human	known	69_37n	missense	67	17.28	14	SNP	1.000	G
FLVCR1	28982	genome.wustl.edu	37	1	213037133	213037133	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr1:213037133C>T	ENST00000366971.4	+	2	1003	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	269					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TGACACAAATCTCCTGGCTTG	0.373																																					Esophageal Squamous(199;2235 2952 19233 26256)	dbGAP											0													162.0	149.0	154.0					1																	213037133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.805C>T	1.37:g.213037133C>T	ENSP00000355938:p.Leu269Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L269F	ENST00000366971.4	37	c.805	CCDS1510.1	1	.	.	.	.	.	.	.	.	.	.	C	7.742	0.701519	0.15172	.	.	ENSG00000162769	ENST00000366971	D	0.84146	-1.81	5.28	2.3	0.28687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.213329	0.41605	D	0.000860	T	0.77253	0.4103	L	0.52759	1.655	0.09310	N	0.999996	B	0.29805	0.257	B	0.32090	0.14	T	0.60409	-0.7269	10	0.18710	T	0.47	-51.2225	6.3491	0.21365	0.1368:0.6585:0.1319:0.0728	.	269	Q9Y5Y0	FLVC1_HUMAN	F	269	ENSP00000355938:L269F	ENSP00000355938:L269F	L	+	1	0	FLVCR1	211103756	0.000000	0.05858	0.036000	0.18154	0.541000	0.35023	0.742000	0.26216	0.200000	0.20447	-1.314000	0.01303	CTC	FLVCR1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000162769		0.373	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	322	0.00	0	C	NM_014053		213037133	213037133	+1	no_errors	ENST00000366971	ensembl	human	known	69_37n	missense	348	13.22	53	SNP	0.039	T
GAGE2B	645037	genome.wustl.edu	37	X	49236865	49236865	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chrX:49236865G>C	ENST00000381725.1	+	2	118	c.35G>C	c.(34-36)aGa>aCa	p.R12T		NM_001098411.3	NP_001091881.1	Q13066	GAG2B_HUMAN	G antigen 2B	12																	TATCGGCCTAGACCAAGACGC	0.448																																						dbGAP											0													35.0	29.0	31.0					X																	49236865		1085	1525	2610	-	-	-	SO:0001583	missense	0					Xp11.23	2012-10-02			ENSG00000231850				31957	protein-coding gene	gene with protein product		300726					Standard	NM_001098411		Approved			Q13066	OTTHUMG00000067391	ENST00000381725.1:c.35G>C	X.37:g.49236865G>C	ENSP00000371144:p.Arg12Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9K0W9|Q4V322	Missense_Mutation	SNP	pfam_GAGE	p.R12T	ENST00000381725.1	37	c.35	CCDS48112.1	X	.	.	.	.	.	.	.	.	.	.	.	9.057	0.993595	0.19043	.	.	ENSG00000231850	ENST00000381725	T	0.15487	2.42	0.99	-1.15	0.09709	.	.	.	.	.	T	0.15609	0.0376	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28650	-1.0037	6	0.72032	D	0.01	.	3.9707	0.09452	0.552:0.0:0.448:0.0	.	.	.	.	T	12	ENSP00000371144:R12T	ENSP00000365350:R12T	R	+	2	0	GAGE2B	49123809	0.001000	0.12720	0.002000	0.10522	0.040000	0.13550	-0.103000	0.10940	-0.588000	0.05882	0.171000	0.16805	AGA	GAGE2B	-	pfam_GAGE	ENSG00000231850		0.448	GAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE2B	HGNC	protein_coding	OTTHUMT00000144210.1	525	0.00	0	G	NM_001098411		49236865	49236865	+1	no_errors	ENST00000381725	ensembl	human	known	69_37n	missense	405	20.28	103	SNP	0.002	C
GREB1	9687	genome.wustl.edu	37	2	11772121	11772121	+	Silent	SNP	C	C	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr2:11772121C>T	ENST00000381486.2	+	27	4998	c.4698C>T	c.(4696-4698)gaC>gaT	p.D1566D	GREB1_ENST00000396123.1_Silent_p.D564D|GREB1_ENST00000234142.5_Silent_p.D1566D	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1566						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGCAATGGACGGTGCCAGCC	0.478																																					Ovarian(39;850 945 2785 23371 33093)	dbGAP											0													97.0	97.0	97.0					2																	11772121		1986	4147	6133	-	-	-	SO:0001819	synonymous_variant	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4698C>T	2.37:g.11772121C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.D1566	ENST00000381486.2	37	c.4698	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.478	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	93	0.00	0	C	NM_014668		11772121	11772121	+1	no_errors	ENST00000234142	ensembl	human	known	69_37n	silent	97	15.65	18	SNP	0.241	T
HSPD1	3329	genome.wustl.edu	37	2	198353857	198353857	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr2:198353857C>A	ENST00000388968.3	-	9	1351	c.1084G>T	c.(1084-1086)Ggt>Tgt	p.G362C	HSPD1_ENST00000345042.2_Missense_Mutation_p.G362C	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	362					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GCCTTGTCACCTTTTCCTTTT	0.403																																						dbGAP											0													71.0	67.0	68.0					2																	198353857		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1084G>T	2.37:g.198353857C>A	ENSP00000373620:p.Gly362Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.G362C	ENST00000388968.3	37	c.1084	CCDS33357.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602697	0.87157	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.72282	-0.64;-0.64	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	H	0.97023	3.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.993	D	0.93365	0.6730	10	0.87932	D	0	-28.9608	18.625	0.91334	0.0:1.0:0.0:0.0	.	353;362;362	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	C	362;362;218	ENSP00000373620:G362C;ENSP00000340019:G362C	ENSP00000340019:G362C	G	-	1	0	HSPD1	198062102	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.722000	0.84778	2.464000	0.83262	0.484000	0.47621	GGT	HSPD1	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60	ENSG00000144381		0.403	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	HGNC	protein_coding	OTTHUMT00000335324.2	147	0.00	0	C	NM_002156		198353857	198353857	-1	no_errors	ENST00000345042	ensembl	human	known	69_37n	missense	108	10.74	13	SNP	1.000	A
INPP4B	8821	genome.wustl.edu	37	4	143114276	143114276	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr4:143114276C>T	ENST00000513000.1	-	16	1578	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	INPP4B_ENST00000308502.4_Missense_Mutation_p.R382Q|INPP4B_ENST00000508116.1_Missense_Mutation_p.R382Q|INPP4B_ENST00000509777.1_Missense_Mutation_p.R382Q|INPP4B_ENST00000262992.4_Missense_Mutation_p.R382Q	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	382					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAGTAGCTTCCGAAGACCACC	0.433																																						dbGAP											0													141.0	147.0	145.0					4																	143114276		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1145G>A	4.37:g.143114276C>T	ENSP00000425487:p.Arg382Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R382Q	ENST00000513000.1	37	c.1145	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163689	0.38217	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.92	5.92	0.95590	.	0.191124	0.47455	D	0.000222	T	0.28732	0.0712	L	0.53249	1.67	0.46149	D	0.99889	B;B	0.31817	0.341;0.112	B;B	0.19148	0.024;0.016	T	0.06006	-1.0851	10	0.11485	T	0.65	.	12.7682	0.57403	0.0:0.9251:0.0:0.0749	.	253;382	B7Z6T2;O15327	.;INP4B_HUMAN	Q	382;382;382;253;382;382;197;197;382;253	ENSP00000425487:R382Q;ENSP00000262992:R382Q;ENSP00000308441:R382Q;ENSP00000423954:R382Q;ENSP00000422793:R382Q;ENSP00000426207:R197Q;ENSP00000427250:R382Q;ENSP00000421065:R253Q	ENSP00000262992:R382Q	R	-	2	0	INPP4B	143333726	1.000000	0.71417	0.979000	0.43373	0.631000	0.37964	3.484000	0.53201	2.809000	0.96659	0.655000	0.94253	CGG	INPP4B	-	NULL	ENSG00000109452		0.433	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	253	0.00	0	C	NM_003866		143114276	143114276	-1	no_errors	ENST00000509777	ensembl	human	known	69_37n	missense	208	13.69	33	SNP	1.000	T
KIAA1755	85449	genome.wustl.edu	37	20	36874487	36874487	+	Silent	SNP	C	C	T	rs201436223		TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr20:36874487C>T	ENST00000279024.4	-	2	316	c.45G>A	c.(43-45)gcG>gcA	p.A15A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	15										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GATAGAGGCCCGCCAGGGCAT	0.602																																						dbGAP											0													48.0	42.0	44.0					20																	36874487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.45G>A	20.37:g.36874487C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.A15	ENST00000279024.4	37	c.45	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	36	0.00	0	C	NM_001029864		36874487	36874487	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	silent	53	24.29	17	SNP	0.072	T
MASTL	84930	genome.wustl.edu	37	10	27459378	27459378	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr10:27459378A>G	ENST00000375940.4	+	8	1547	c.1490A>G	c.(1489-1491)aAa>aGa	p.K497R	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.K497R|MASTL_ENST00000342386.6_Missense_Mutation_p.K497R			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGTGCACAAAAGTCAACAA	0.323																																						dbGAP											0													57.0	57.0	57.0					10																	27459378		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1490A>G	10.37:g.27459378A>G	ENSP00000365107:p.Lys497Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K497R	ENST00000375940.4	37	c.1490	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.003294	0.00431	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.17370	2.28;2.28;2.28	5.67	1.71	0.24356	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.470389	0.22565	N	0.058411	T	0.05777	0.0151	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.42531	-0.9446	10	0.07175	T	0.84	-2.2388	9.0145	0.36161	0.3137:0.0:0.6863:0.0	.	497;497;497	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	R	497	ENSP00000365113:K497R;ENSP00000343446:K497R;ENSP00000365107:K497R	ENSP00000343446:K497R	K	+	2	0	MASTL	27499384	0.661000	0.27430	0.006000	0.13384	0.112000	0.19704	2.578000	0.46051	0.302000	0.22762	-0.242000	0.12053	AAA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000120539		0.323	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	86	0.00	0	A	NM_032844		27459378	27459378	+1	no_errors	ENST00000375940	ensembl	human	known	69_37n	missense	75	35.90	42	SNP	0.005	G
MCOLN2	255231	genome.wustl.edu	37	1	85403443	85403443	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr1:85403443C>T	ENST00000370608.3	-	11	1397	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.D416N	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	444					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CACACCTTGTCATGGTATGGT	0.488																																						dbGAP											0													95.0	82.0	86.0					1																	85403443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1330G>A	1.37:g.85403443C>T	ENSP00000359640:p.Asp444Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.D444N	ENST00000370608.3	37	c.1330	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133740	0.56828	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.70986	-0.53;-0.53	6.07	3.08	0.35506	Polycystin cation channel, PKD1/PKD2 (1);	0.280337	0.45126	N	0.000392	T	0.30792	0.0776	N	0.19112	0.55	0.30980	N	0.722615	B	0.09022	0.002	B	0.12156	0.007	T	0.09207	-1.0685	10	0.13108	T	0.6	-32.1727	12.0639	0.53578	0.0:0.8573:0.0:0.1427	.	444	Q8IZK6	MCLN2_HUMAN	N	444;416	ENSP00000359640:D444N;ENSP00000284027:D416N	ENSP00000284027:D416N	D	-	1	0	MCOLN2	85176031	1.000000	0.71417	0.843000	0.33291	0.976000	0.68499	3.027000	0.49697	0.388000	0.25054	0.650000	0.86243	GAC	MCOLN2	-	pfam_PKD1_2_channel	ENSG00000153898		0.488	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	88	0.00	0	C	NM_153259		85403443	85403443	-1	no_errors	ENST00000370608	ensembl	human	known	69_37n	missense	71	34.26	37	SNP	1.000	T
MEX3B	84206	genome.wustl.edu	37	15	82336479	82336479	+	Silent	SNP	G	G	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr15:82336479G>A	ENST00000329713.4	-	2	1167	c.732C>T	c.(730-732)aaC>aaT	p.N244N	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	244					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CATCGGTGCCGTTGGCGTGGA	0.652																																						dbGAP											0													124.0	110.0	115.0					15																	82336479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.732C>T	15.37:g.82336479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.N244	ENST00000329713.4	37	c.732	CCDS10319.1	15																																																																																			MEX3B	-	NULL	ENSG00000183496		0.652	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1	15	0.00	0	G	XM_290645		82336479	82336479	-1	no_errors	ENST00000329713	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	1.000	A
MFF	56947	genome.wustl.edu	37	2	228194484	228194484	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr2:228194484A>T	ENST00000353339.3	+	3	464	c.23A>T	c.(22-24)gAc>gTc	p.D8V	MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000409616.1_5'UTR|MFF_ENST00000354503.6_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.D8V|MFF_ENST00000337110.7_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000304593.9_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	8					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ACAAGCAGTGACACATCACTA	0.363																																						dbGAP											0													125.0	117.0	120.0					2																	228194484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.23A>T	2.37:g.228194484A>T	ENSP00000302037:p.Asp8Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.D8V	ENST00000353339.3	37	c.23	CCDS2465.1	2	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933281	0.52866	.	.	ENSG00000168958	ENST00000353339;ENST00000436237;ENST00000443428;ENST00000392059	T;T;T;T	0.67865	1.44;-0.29;1.41;1.44	5.97	5.97	0.96955	.	0.000000	0.56097	D	0.000033	T	0.58221	0.2107	L	0.36672	1.1	0.58432	D	0.999998	B	0.29301	0.241	B	0.32724	0.151	T	0.54925	-0.8220	9	.	.	.	-2.9322	13.9693	0.64230	1.0:0.0:0.0:0.0	.	8	Q9GZY8	MFF_HUMAN	V	8	ENSP00000302037:D8V;ENSP00000411386:D8V;ENSP00000391829:D8V;ENSP00000375912:D8V	.	D	+	2	0	MFF	227902728	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	5.008000	0.63991	2.285000	0.76669	0.528000	0.53228	GAC	MFF	-	NULL	ENSG00000168958		0.363	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2	162	0.00	0	A	NM_020194		228194484	228194484	+1	no_errors	ENST00000353339	ensembl	human	known	69_37n	missense	172	16.50	34	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77644827	77644827	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr13:77644827A>G	ENST00000544440.2	-	69	11746	c.11729T>C	c.(11728-11730)cTg>cCg	p.L3910P	MYCBP2_ENST00000407578.2_Missense_Mutation_p.L3948P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L3910P					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGTTCTTTCAGGTCAGCATC	0.299																																						dbGAP											0													201.0	188.0	192.0					13																	77644827		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11729T>C	13.37:g.77644827A>G	ENSP00000444596:p.Leu3910Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.L3948P	ENST00000544440.2	37	c.11843		13	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424698	0.83667	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.44083	0.93;0.93;0.93	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000005	T	0.64238	0.2580	M	0.71036	2.16	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.67872	-0.5558	10	0.87932	D	0	.	15.1695	0.72858	1.0:0.0:0.0:0.0	.	3910	O75592	MYCB2_HUMAN	P	3910;3948;3910	ENSP00000349892:L3910P;ENSP00000384288:L3948P;ENSP00000444596:L3910P	ENSP00000349892:L3910P	L	-	2	0	MYCBP2	76542828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.915000	0.92740	2.172000	0.68678	0.533000	0.62120	CTG	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.299	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	169	0.00	0	A	NM_015057		77644827	77644827	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	82	51.19	86	SNP	1.000	G
MYH8	4626	genome.wustl.edu	37	17	10303960	10303960	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr17:10303960G>T	ENST00000403437.2	-	27	3576	c.3482C>A	c.(3481-3483)tCt>tAt	p.S1161Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1161					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CACCTGAGCAGAAGTTGCCCC	0.607									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											0													85.0	94.0	91.0					17																	10303960		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3482C>A	17.37:g.10303960G>T	ENSP00000384330:p.Ser1161Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1161Y	ENST00000403437.2	37	c.3482	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998326	0.54147	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79247	-1.25	5.35	5.35	0.76521	Myosin tail (1);	0.200716	0.24748	U	0.035939	D	0.90546	0.7037	M	0.91090	3.175	0.45330	D	0.998321	P	0.49090	0.919	D	0.63793	0.918	D	0.91897	0.5528	10	0.87932	D	0	.	19.2529	0.93932	0.0:0.0:1.0:0.0	.	1161	P13535	MYH8_HUMAN	Y	1161	ENSP00000384330:S1161Y	ENSP00000252173:S1161Y	S	-	2	0	MYH8	10244685	1.000000	0.71417	0.439000	0.26833	0.274000	0.26718	9.503000	0.97984	2.785000	0.95823	0.655000	0.94253	TCT	MYH8	-	pfam_Myosin_tail	ENSG00000133020		0.607	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	93	0.00	0	G	NM_002472		10303960	10303960	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	0.883	T
PHRF1	57661	genome.wustl.edu	37	11	610989	610991	+	In_Frame_Del	DEL	GGA	GGA	-	rs376930975		TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr11:610989_610991delGGA	ENST00000264555.5	+	17	4841_4843	c.4713_4715delGGA	c.(4711-4716)gtggag>gtg	p.E1573del	PHRF1_ENST00000533464.1_In_Frame_Del_p.E1569del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E1572del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E1571del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1573					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGCGTGCTGTGGAGGAGGTGAAG	0.596																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4713_4715delGGA	11.37:g.610992_610994delGGA	ENSP00000264555:p.Glu1573del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1573in_frame_del	ENST00000264555.5	37	c.4713_4715		11																																																																																			PHRF1	-	NULL	ENSG00000070047		0.596	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	83	0.00	0	GGA	NM_020901		610989	610991	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	in_frame_del	119	23.27	37	DEL	1.000:1.000:1.000	-
PKD1L3	342372	genome.wustl.edu	37	16	72032228	72032228	+	RNA	SNP	G	G	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr16:72032228G>A	ENST00000534738.1	-	0	360							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						GATGAGATCCGAATGAAGTTT	0.488																																						dbGAP											0													145.0	121.0	128.0					16																	72032228		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72032228G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.488	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	142	0.00	0	G	NM_181536		72032228	72032228	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	124	29.14	51	SNP	0.000	A
POFUT1	23509	genome.wustl.edu	37	20	30816166	30816166	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr20:30816166T>A	ENST00000375749.3	+	5	705	c.643T>A	c.(643-645)Tca>Aca	p.S215T	POFUT1_ENST00000539210.1_Missense_Mutation_p.S4T|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	215					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATGGTATGGTCAGACGAAAT	0.557																																						dbGAP											0													112.0	99.0	104.0					20																	30816166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.643T>A	20.37:g.30816166T>A	ENSP00000364902:p.Ser215Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	pfam_GDP-Fuc_O-FucTrfase	p.S215T	ENST00000375749.3	37	c.643	CCDS13198.1	20	.	.	.	.	.	.	.	.	.	.	T	17.71	3.455724	0.63401	.	.	ENSG00000101346	ENST00000375749;ENST00000539210	T;T	0.33438	1.41;1.41	5.84	4.68	0.58851	.	0.055814	0.64402	D	0.000001	T	0.36358	0.0964	M	0.71920	2.185	0.80722	D	1	B	0.31879	0.344	B	0.35655	0.207	T	0.27502	-1.0072	10	0.48119	T	0.1	-10.4754	12.7294	0.57189	0.0:0.0:0.137:0.863	.	215	Q9H488	OFUT1_HUMAN	T	215;4	ENSP00000364902:S215T;ENSP00000446154:S4T	ENSP00000364902:S215T	S	+	1	0	POFUT1	30279827	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.038000	0.57318	2.232000	0.73038	0.533000	0.62120	TCA	POFUT1	-	pfam_GDP-Fuc_O-FucTrfase	ENSG00000101346		0.557	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT1	HGNC	protein_coding	OTTHUMT00000078613.1	64	0.00	0	T	NM_015352		30816166	30816166	+1	no_errors	ENST00000375749	ensembl	human	known	69_37n	missense	106	21.32	29	SNP	1.000	A
RUNX1	861	genome.wustl.edu	37	21	36252860	36252860	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr21:36252860C>G	ENST00000344691.4	-	2	1998	c.421G>C	c.(421-423)Gga>Cga	p.G141R	RUNX1_ENST00000486278.2_Missense_Mutation_p.G144R|RUNX1_ENST00000437180.1_Missense_Mutation_p.G168R|RUNX1_ENST00000358356.5_Missense_Mutation_p.G141R|RUNX1_ENST00000325074.5_Missense_Mutation_p.G156R|RUNX1_ENST00000399240.1_Missense_Mutation_p.G141R|RUNX1_ENST00000300305.3_Missense_Mutation_p.G168R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	141	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G168*(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTACCTCTTCCACTTCGACCG	0.428			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											117.0	104.0	109.0					21																	36252860		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.421G>C	21.37:g.36252860C>G	ENSP00000340690:p.Gly141Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.G168R	ENST00000344691.4	37	c.502	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989850	0.93106	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99795	-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78	5.18	5.18	0.71444	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053013	0.85682	N	0.000000	D	0.99832	0.9924	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96949	0.9693	10	0.87932	D	0	-12.0312	19.051	0.93046	0.0:1.0:0.0:0.0	.	168;141;141;144;168;156;141	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	R	141;168;168;156;141;144;141;156;144	ENSP00000340690:G141R;ENSP00000300305:G168R;ENSP00000409227:G168R;ENSP00000319459:G156R;ENSP00000382184:G141R;ENSP00000351123:G141R;ENSP00000382182:G156R;ENSP00000438019:G144R	ENSP00000300305:G168R	G	-	1	0	RUNX1	35174730	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.445000	0.80570	2.583000	0.87209	0.563000	0.77884	GGA	RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.428	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	134	0.00	0	C			36252860	36252860	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	missense	92	36.55	53	SNP	1.000	G
SLC9A1	6548	genome.wustl.edu	37	1	27429181	27429181	+	Silent	SNP	G	G	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr1:27429181G>A	ENST00000263980.3	-	7	2204	c.1629C>T	c.(1627-1629)caC>caT	p.H543H	SLC9A1_ENST00000545949.1_Silent_p.H204H	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	543					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCCAGTGGTGGTGACCGTAGT	0.642											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													60.0	57.0	58.0					1																	27429181		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1629C>T	1.37:g.27429181G>A		Somatic	794	WXS	Illumina GAIIx	Phase_IV	B1ALD6|D3DPL4|Q96EM2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.H543	ENST00000263980.3	37	c.1629	CCDS295.1	1																																																																																			SLC9A1	-	tigrfam_NaH_exchanger	ENSG00000090020		0.642	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	40	0.00	0	G	NM_003047		27429181	27429181	-1	no_errors	ENST00000263980	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	Somatic		WXS	Illumina GAIIx	Phase_IV	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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	96	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	85	27.35	32	SNP	0.864	T
TRIM17	51127	genome.wustl.edu	37	1	228596209	228596209	+	Missense_Mutation	SNP	C	C	T	rs200664481		TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr1:228596209C>T	ENST00000366697.2	-	6	2083	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	TRIM17_ENST00000366698.2_Missense_Mutation_p.R376Q|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.R376Q|TRIM11_ENST00000284551.6_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	376	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCTGTCTTTCCGGCTCACGTT	0.622																																						dbGAP											0													72.0	79.0	77.0					1																	228596209		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1127G>A	1.37:g.228596209C>T	ENSP00000355658:p.Arg376Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R376Q	ENST00000366697.2	37	c.1127	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658533	0.67586	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.68331	-0.32;-0.32;-0.32	4.71	3.79	0.43588	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43579	D	0.000560	T	0.63355	0.2504	M	0.90483	3.12	0.80722	D	1	P	0.39903	0.694	B	0.26770	0.073	T	0.69781	-0.5052	10	0.46703	T	0.11	.	7.871	0.29565	0.0:0.8914:0.0:0.1086	.	376	Q9Y577	TRI17_HUMAN	Q	376	ENSP00000355658:R376Q;ENSP00000355659:R376Q;ENSP00000295033:R376Q	ENSP00000295033:R376Q	R	-	2	0	TRIM17	226662832	0.068000	0.21057	0.990000	0.47175	0.063000	0.16089	3.299000	0.51826	2.531000	0.85337	0.655000	0.94253	CGG	TRIM17	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162931		0.622	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	54	0.00	0	C	NM_016102		228596209	228596209	-1	no_errors	ENST00000295033	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	1.000	T
TSHR	7253	genome.wustl.edu	37	14	81609772	81609772	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr14:81609772C>A	ENST00000541158.2	+	11	1692	c.1370C>A	c.(1369-1371)gCc>gAc	p.A457D	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A457D			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	457					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGCAACCTGGCCTTTGCGGAT	0.527			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															dbGAP	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													748.0	592.0	645.0					14																	81609772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1370C>A	14.37:g.81609772C>A	ENSP00000441235:p.Ala457Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.A457D	ENST00000541158.2	37	c.1370	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582812	0.86748	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.85702	-2.02;-2.02	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97021	0.9743	10	0.87932	D	0	.	19.9226	0.97093	0.0:1.0:0.0:0.0	.	457	F5GYU5	.	D	457;104;457	ENSP00000441235:A457D;ENSP00000298171:A457D	ENSP00000298171:A457D	A	+	2	0	TSHR	80679525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.720000	0.93068	0.561000	0.74099	GCC	TSHR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000165409		0.527	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	571	0.00	0	C	NM_000369		81609772	81609772	+1	no_errors	ENST00000298171	ensembl	human	known	69_37n	missense	725	31.57	335	SNP	1.000	A
ZNF814	730051	genome.wustl.edu	37	19	58384420	58384420	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12O-01A-11D-A10Y-09	TCGA-C8-A12O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51dbda2a-106b-4597-aa49-609b677866c8	5d34bbb4-54c8-4a35-baee-80c72548ca34	g.chr19:58384420A>G	ENST00000435989.2	-	3	2572	c.2338T>C	c.(2338-2340)Tct>Cct	p.S780P	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	780					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCAGCGAAAGATTTTCCACAT	0.398																																						dbGAP											0													74.0	62.0	66.0					19																	58384420		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2338T>C	19.37:g.58384420A>G	ENSP00000410545:p.Ser780Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S780P	ENST00000435989.2	37	c.2338	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	11.79	1.742976	0.30865	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.01165	5.24	2.48	-0.225	0.13111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	M	0.81341	2.54	0.09310	N	1	D	0.69078	0.997	P	0.53062	0.717	T	0.36578	-0.9742	9	0.51188	T	0.08	.	4.7147	0.12889	0.6297:0.1871:0.0:0.1832	.	780	B7Z6K7	ZN814_HUMAN	P	780;502	ENSP00000410545:S780P	ENSP00000365378:S502P	S	-	1	0	ZNF814	63076232	0.000000	0.05858	0.153000	0.22517	0.035000	0.12851	-0.153000	0.10144	0.173000	0.19788	0.254000	0.18369	TCT	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.398	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	207	0.00	0	A	XM_001725708		58384420	58384420	-1	no_errors	ENST00000435989	ensembl	human	known	69_37n	missense	146	28.08	57	SNP	0.024	G
