#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								2675	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			2675		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000210082			G			2675	+1	no_errors	ENST00000387347	ensembl	human	known	54_36p	rna	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								5169	SO:0001628	intergenic_variant	0																															Unknown.37:g.0C>T			5169		Silent	SNP	HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C	p.T233		37	c.699		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND2			C			5169	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361453	ensembl	human	known	54_36p	silent	SNP	NULL	T
IPO7	10527	genome.wustl.edu	37	11	9466732	9466732	+	Silent	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr11:9466732G>A	ENST00000379719.3	+	25	3250	c.3108G>A	c.(3106-3108)ggG>ggA	p.G1036G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1036					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAGCACCAGGGATGAATTGAG	0.413																																																0			11											75.0	72.0	73.0					11																	9466732		2201	4294	6495	9423308	SO:0001819	synonymous_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3108G>A	11.37:g.9466732G>A			9423308	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	superfamily_ARM-type_fold,HMMPfam_IBN_N	p.G1036	ENST00000379719.3	37	c.3108	CCDS31425.1	11																																																																																			-	NULL		0.413	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	protein_coding	OTTHUMT00000386022.1	G	NM_006391		9423308	+1	no_errors	NM_006391	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
HTR6	3362	genome.wustl.edu	37	1	20005106	20005106	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr1:20005106G>A	ENST00000289753.1	+	2	1228	c.761G>A	c.(760-762)cGt>cAt	p.R254H		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	254					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GACAGCAGGCGTCTAGCCACG	0.632																																					Esophageal Squamous(168;1879 2619 6848 21062)											0			1											68.0	62.0	64.0					1																	20005106		2203	4300	6503	19877693	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.761G>A	1.37:g.20005106G>A	ENSP00000289753:p.Arg254His		19877693	Q13640|Q5TGZ1	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R254H	ENST00000289753.1	37	c.761	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567875	0.65651	.	.	ENSG00000158748	ENST00000289753	T	0.39229	1.09	5.36	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.833064	0.10764	N	0.636775	T	0.53514	0.1801	L	0.46819	1.47	0.24421	N	0.994613	D	0.76494	0.999	D	0.64506	0.926	T	0.36915	-0.9728	9	.	.	.	.	8.8172	0.35002	0.08:0.1524:0.7676:0.0	.	254	P50406	5HT6R_HUMAN	H	254	ENSP00000289753:R254H	.	R	+	2	0	HTR6	19877693	1.000000	0.71417	0.994000	0.49952	0.499000	0.33736	4.022000	0.57203	1.383000	0.46405	0.655000	0.94253	CGT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.632	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	protein_coding	OTTHUMT00000007704.1	G	NM_000871		19877693	+1	no_errors	NM_000871	genbank	human	provisional	54_36p	missense	SNP	0.999	A
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	-	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289551	-1	no_errors	NM_033360	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SCN5A	6331	genome.wustl.edu	37	3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	rs199473605		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGAGGCAGACGAGGAGGACG	0.577																																																0			3											112.0	106.0	108.0					3																	38601865		2203	4300	6503	38576869	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4018G>A	3.37:g.38601865C>T	ENSP00000328968:p.Val1340Ile		38576869	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ	p.V1340I	ENST00000333535.4	37	c.4018	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38576869	-1	no_errors	NM_001099404	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MX1	4599	genome.wustl.edu	37	21	42824602	42824602	+	Missense_Mutation	SNP	C	C	T	rs149039781		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr21:42824602C>T	ENST00000398600.2	+	18	2589	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	MX1_ENST00000455164.2_Missense_Mutation_p.R522C|MX1_ENST00000288383.6_Missense_Mutation_p.R499C|MX1_ENST00000398598.3_Missense_Mutation_p.R522C	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	522	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAAGCTGATCCGCCTCCACTT	0.423																																																0			21						C	CYS/ARG,CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	101.0	106.0	105.0		1564,1564,1564	2.6	0.3	21	dbSNP_134	105	0,8600		0,0,4300	yes	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	180,180,180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging	522/663,522/663,522/663	42824602	4,13002	2203	4300	6503	41746472	SO:0001583	missense	4599				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1564C>T	21.37:g.42824602C>T	ENSP00000381601:p.Arg522Cys		41746472	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,HMMPfam_GED,HMMSmart_GED	p.R522C	ENST00000398600.2	37	c.1564	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	C	16.55	3.156006	0.57259	9.08E-4	0.0	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	4.61	2.61	0.31194	Dynamin central domain (1);	0.271209	0.35708	N	0.003032	D	0.85448	0.5699	M	0.91459	3.21	0.45025	D	0.998044	D	0.89917	1.0	D	0.78314	0.991	D	0.84585	0.0663	10	0.87932	D	0	-8.4544	4.965	0.14085	0.2081:0.6843:0.0:0.1076	.	522	P20591	MX1_HUMAN	C	522;522;522;499	ENSP00000381601:R522C;ENSP00000381599:R522C;ENSP00000410523:R522C;ENSP00000288383:R499C	ENSP00000288383:R499C	R	+	1	0	MX1	41746472	0.986000	0.35501	0.328000	0.25416	0.022000	0.10575	0.749000	0.26320	1.239000	0.43787	0.563000	0.77884	CGC	-	HMMPfam_Dynamin_M		0.423	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	protein_coding	OTTHUMT00000195161.2	C			41746472	+1	no_errors	NM_002462	genbank	human	reviewed	54_36p	missense	SNP	0.219	T
ZNF850	342892	genome.wustl.edu	37	19	37239219	37239219	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr19:37239219C>T	ENST00000591344.1	-	5	2881	c.2723G>A	c.(2722-2724)cGt>cAt	p.R908H	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	908					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTTGAACGACGTCTAAAGGC	0.428																																																0			19																																								41931059	SO:0001583	missense	342892			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.2723G>A	19.37:g.37239219C>T	ENSP00000464976:p.Arg908His		41931059		Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.R906H	ENST00000591344.1	37	c.2717	CCDS59379.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.428	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC342892	protein_coding	OTTHUMT00000453557.1	C	XM_001720258		41931059	-1	pseudogene	XM_001720258	genbank	human	model	54_36p	missense	SNP	0.000	T
IL17RD	54756	genome.wustl.edu	37	3	57131882	57131882	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr3:57131882C>A	ENST00000296318.7	-	12	1937	c.1849G>T	c.(1849-1851)Gac>Tac	p.D617Y	IL17RD_ENST00000463523.1_Missense_Mutation_p.D473Y|IL17RD_ENST00000427856.2_Missense_Mutation_p.D593Y|IL17RD_ENST00000320057.5_Missense_Mutation_p.D473Y	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	617					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGCTGGGAGTCGGCTGGTCCG	0.622																																																0			3											19.0	22.0	21.0					3																	57131882		2202	4300	6502	57106922	SO:0001583	missense	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1849G>T	3.37:g.57131882C>A	ENSP00000296318:p.Asp617Tyr		57106922	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	HMMPfam_SEFIR	p.D585Y	ENST00000296318.7	37	c.1753	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871532	0.72065	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.11277	2.79;2.8;2.79;2.8	5.17	3.32	0.38043	.	2.233790	0.01553	N	0.019758	T	0.30386	0.0763	L	0.53249	1.67	0.38174	D	0.939413	D;D;D	0.71674	0.998;0.997;0.998	D;P;D	0.65443	0.921;0.862;0.935	T	0.00172	-1.1958	10	0.45353	T	0.12	-0.8955	10.4912	0.44752	0.0:0.8383:0.0:0.1617	.	473;617;593	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	Y	617;473;593;473	ENSP00000296318:D617Y;ENSP00000322250:D473Y;ENSP00000399209:D593Y;ENSP00000417516:D473Y	ENSP00000296318:D617Y	D	-	1	0	IL17RD	57106922	0.958000	0.32768	0.016000	0.15963	0.117000	0.20001	1.486000	0.35530	0.546000	0.28920	0.591000	0.81541	GAC	-	NULL		0.622	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	protein_coding	OTTHUMT00000316680.1	C	NM_017563		57106922	-1	no_errors	NM_017563	genbank	human	validated	54_36p	missense	SNP	0.019	A
MTG2	26164	genome.wustl.edu	37	20	60776028	60776028	+	Silent	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr20:60776028G>A	ENST00000370823.3	+	7	1134	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A	MTG2_ENST00000436421.2_Silent_p.A214A|MTG2_ENST00000536470.1_Silent_p.A144A	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	372	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TGCTGTCGGCGTTGACCGGCG	0.632																																																0			20											49.0	47.0	48.0					20																	60776028		2203	4300	6503	60209423	SO:0001819	synonymous_variant	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.1116G>A	20.37:g.60776028G>A			60209423	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	superfamily_GTP1_OBG_sub,HMMPfam_GTP1_OBG,HMMPfam_MMR_HSR1,superfamily_SSF52540	p.A372	ENST00000370823.3	37	c.1116	CCDS13492.1	20																																																																																			-	superfamily_SSF52540		0.632	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP5	protein_coding	OTTHUMT00000079989.1	G	NM_015666		60209423	+1	no_errors	NM_015666	genbank	human	validated	54_36p	silent	SNP	0.000	A
FOXO4	4303	genome.wustl.edu	37	X	70321190	70321190	+	Silent	SNP	C	C	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chrX:70321190C>T	ENST00000374259.3	+	2	1442	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	FOXO4_ENST00000341558.3_Silent_p.L315L	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	370					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGGCCCTGCTCACCTCTGATA	0.617											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											25.0	27.0	26.0					X																	70321190		1998	4136	6134	70237915	SO:0001819	synonymous_variant	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1110C>T	X.37:g.70321190C>T		1121	70237915	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	"HMMPfam_Fork_head,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00339,PatternScan_FORK_HEAD_2"	p.L370	ENST00000374259.3	37	c.1110	CCDS43969.1	X																																																																																			-	NULL		0.617	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	protein_coding	OTTHUMT00000057115.1	C	NM_005938		70237915	+1	no_errors	NM_005938	genbank	human	validated	54_36p	silent	SNP	0.998	T
CLIP2	7461	genome.wustl.edu	37	7	73768318	73768318	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr7:73768318G>C	ENST00000395060.1	+	3	787	c.787G>C	c.(787-789)Gcg>Ccg	p.A263P	CLIP2_ENST00000361545.5_Missense_Mutation_p.A263P|CLIP2_ENST00000223398.6_Missense_Mutation_p.A263P			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	263	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAATGATGGGGCGGTGGCGGG	0.652																																																0			7											92.0	92.0	92.0					7																	73768318		2203	4300	6503	73406254	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.787G>C	7.37:g.73768318G>C	ENSP00000378500:p.Ala263Pro		73406254	O14527|O43611	Missense_Mutation	SNP	superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1	p.A263P	ENST00000395060.1	37	c.787	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985816	0.74589	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	D;D;D	0.91631	-2.88;-2.88;-2.88	5.5	5.5	0.81552	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96277	0.9203	10	0.87932	D	0	-35.3377	18.1332	0.89608	0.0:0.0:1.0:0.0	.	263;263	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	P	263	ENSP00000223398:A263P;ENSP00000355151:A263P;ENSP00000378500:A263P	ENSP00000223398:A263P	A	+	1	0	CLIP2	73406254	1.000000	0.71417	0.989000	0.46669	0.246000	0.25737	7.414000	0.80117	2.861000	0.98227	0.655000	0.94253	GCG	-	superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1		0.652	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	G	NM_003388		73406254	+1	no_errors	NM_003388	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
EIF5AL1	143244	genome.wustl.edu	37	10	81272509	81272509	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr10:81272509G>T	ENST00000520547.2	+	1	153	c.104G>T	c.(103-105)gGc>gTc	p.G35V	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	35					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GTGCTCAAAGGCTGGCCATGT	0.517																																																0			10											2.0	3.0	3.0					10																	81272509		1044	2398	3442	80942515	SO:0001583	missense	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 5A pseudogene 1"""	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.104G>T	10.37:g.81272509G>T	ENSP00000430706:p.Gly35Val		80942515		Missense_Mutation	SNP	superfamily_Transl_SH3_like,PatternScan_IF5A_HYPUSINE,HMMPfam_eIF-5a,superfamily_Nucleic_acid_OB	p.G35V	ENST00000520547.2	37	c.104	CCDS53546.1	10	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242489	0.22796	.	.	ENSG00000253626	ENST00000520547	T	0.52983	0.64	1.31	0.236	0.15471	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	.	.	.	.	T	0.66934	0.2840	H	0.96080	3.765	0.58432	D	0.999999	D	0.63880	0.993	P	0.55303	0.773	T	0.66677	-0.5863	9	0.87932	D	0	.	5.6292	0.17501	0.2116:0.0:0.7884:0.0	.	35	Q6IS14	IF5AL_HUMAN	V	35	ENSP00000430706:G35V	ENSP00000430706:G35V	G	+	2	0	EIF5AL1	80942515	1.000000	0.71417	0.172000	0.22920	0.087000	0.18053	6.081000	0.71309	-0.133000	0.11537	0.372000	0.22366	GGC	-	superfamily_Transl_SH3_like		0.517	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5AL1	protein_coding	OTTHUMT00000048954.4	G	NM_001099692		80942515	+1	no_errors	NM_001099692	genbank	human	validated	54_36p	missense	SNP	1.000	T
FOLH1B	219595	genome.wustl.edu	37	11	89395351	89395351	+	RNA	SNP	T	T	C			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr11:89395351T>C	ENST00000532352.1	+	0	749							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCAGAGGCTGTTGGTCTTCCA	0.368																																																0			11																																								89034999			0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395351T>C			89034999		Missense_Mutation	SNP	superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer	p.V267A	ENST00000532352.1	37	c.800		11																																																																																			-	superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases		0.368	FOLH1B-004	KNOWN	basic	processed_transcript	uc001pda.1	pseudogene	OTTHUMT00000395421.1	T	NM_153696		89034999	+1	no_start_codon	ENST00000389724	ensembl	human	known	54_36p	missense	SNP	0.998	C
COL1A2	1278	genome.wustl.edu	37	7	94056948	94056948	+	Missense_Mutation	SNP	G	G	T	rs74315103		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr7:94056948G>T	ENST00000297268.6	+	49	3748	c.3277G>T	c.(3277-3279)Ggt>Tgt	p.G1093C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1093					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGCCCCCCTGGTCCCCCTGG	0.537										HNSCC(75;0.22)																																						0			7											73.0	82.0	79.0					7																	94056948		2203	4300	6503	93894884	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3277G>T	7.37:g.94056948G>T	ENSP00000297268:p.Gly1093Cys		93894884	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI	p.G1093C	ENST00000297268.6	37	c.3277	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617139	0.46736	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97577	1.0108	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	1093	P08123	CO1A2_HUMAN	C	1093;1094	ENSP00000297268:G1093C	ENSP00000297268:G1093C	G	+	1	0	COL1A2	93894884	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGT	-	HMMPfam_Collagen		0.537	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	protein_coding	OTTHUMT00000309045.2	G	NM_000089		93894884	+1	no_errors	NM_000089	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DYNC1H1	1778	genome.wustl.edu	37	14	102508447	102508447	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr14:102508447C>G	ENST00000360184.4	+	66	12364	c.12200C>G	c.(12199-12201)aCt>aGt	p.T4067S	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4067	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.T4067I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACGCAGATCACTTCAATTGCA	0.547																																																1	Substitution - Missense(1)	skin(1)	14											101.0	83.0	89.0					14																	102508447		2203	4300	6503	101578200	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12200C>G	14.37:g.102508447C>G	ENSP00000348965:p.Thr4067Ser		101578200	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.T4067S	ENST00000360184.4	37	c.12200	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670308	0.47677	.	.	ENSG00000197102	ENST00000360184	T	0.08807	3.05	5.91	5.91	0.95273	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	N	0.25094	0.71	0.80722	D	1	B	0.22983	0.078	B	0.24974	0.057	T	0.16217	-1.0410	10	0.05721	T	0.95	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	4067	Q14204	DYHC1_HUMAN	S	4067	ENSP00000348965:T4067S	ENSP00000348965:T4067S	T	+	2	0	DYNC1H1	101578200	1.000000	0.71417	0.968000	0.41197	0.565000	0.35776	6.087000	0.71362	2.808000	0.96608	0.655000	0.94253	ACT	-	HMMPfam_Dynein_heavy		0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376		101578200	+1	no_errors	NM_001376	genbank	human	reviewed	54_36p	missense	SNP	0.997	G
PCDHGB3	56102	genome.wustl.edu	37	5	140778230	140778230	+	Intron	SNP	C	C	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr5:140778230C>T	ENST00000576222.1	+	1	2546				PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGTTTCTCATTAATAATT	0.413																																																0			5											59.0	62.0	61.0					5																	140778230		1829	4081	5910	140758414	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25854C>T	5.37:g.140778230C>T			140758414	A7E229|Q9Y5C7	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.S179L	ENST00000576222.1	37	c.536	CCDS58980.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.413	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB5	protein_coding	OTTHUMT00000437094.1	C	NM_018924		140758414	+1	no_errors	NM_018925	genbank	human	reviewed	54_36p	missense	SNP	0.815	T
WDR49	151790	genome.wustl.edu	37	3	167223147	167223147	+	Silent	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr3:167223147G>A	ENST00000308378.3	-	13	2081	c.1776C>T	c.(1774-1776)tgC>tgT	p.C592C	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.C417C|WDR49_ENST00000453925.2_Silent_p.C557C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	592										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTCTTTCATGCAGGTACTTC	0.254																																																0			3											47.0	51.0	50.0					3																	167223147		2198	4283	6481	168705841	SO:0001819	synonymous_variant	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1776C>T	3.37:g.167223147G>A			168705841	Q8N297	Silent	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.C592	ENST00000308378.3	37	c.1776	CCDS3201.1	3	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.712612	0.00712	.	.	ENSG00000174776	ENST00000472600	.	.	.	4.78	-4.26	0.03755	.	.	.	.	.	T	0.26557	0.0649	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36187	-0.9758	4	.	.	.	.	6.7665	0.23571	0.2765:0.0:0.5645:0.159	.	.	.	.	V	569	.	.	A	-	2	0	WDR49	168705841	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	-0.002000	0.12924	-0.277000	0.09193	-0.290000	0.09829	GCA	-	NULL		0.254	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	protein_coding	OTTHUMT00000350592.3	G	NM_178824		168705841	-1	no_errors	NM_178824	genbank	human	provisional	54_36p	silent	SNP	0.000	A
SRGAP2	23380	genome.wustl.edu	37	1	206613361	206613361	+	Missense_Mutation	SNP	C	C	T	rs369067812		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr1:206613361C>T	ENST00000414007.1	+	13	1384	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	602	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCTGCACATCCGGAAAGTCCT	0.483																																																0			1						C	TRP/ARG,TRP/ARG,TRP/ARG	2,3972		0,2,1985	140.0	140.0	140.0		1547,1544,1547	5.6	1.0	1		140	0,8354		0,0,4177	no	missense,missense,missense	SRGAP2	NM_001042758.1,NM_001170637.1,NM_015326.2	101,101,101	0,2,6162	TT,TC,CC		0.0,0.0503,0.0162	probably-damaging,probably-damaging,probably-damaging	602/837,601/1071,602/1072	206613361	2,12326	1987	4177	6164	204679984	SO:0001583	missense	23380			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1384C>T	1.37:g.206613361C>T	ENSP00000390898:p.Arg462Trp		204679984		Missense_Mutation	SNP	NULL	p.P515L	ENST00000414007.1	37	c.1544		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.412632|4.412632	0.83340|0.83340	5.03E-4|5.03E-4	0.0|0.0	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007;ENST00000439126	.|T;T	.|0.21031	.|2.03;2.03	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.057418	.|0.64402	.|D	.|0.000002	T|T	0.47637|0.47637	0.1456|0.1456	.|.	.|.	.|.	.|.	.|.	.|.	.|D;D	.|0.89917	.|1.0;0.996	.|D;D	.|0.72625	.|0.957;0.978	T|T	0.51576|0.51576	-0.8688|-0.8688	3|8	.|0.87932	.|D	.|0	.|.	16.281|16.281	0.82687|0.82687	0.1329:0.867:0.0:0.0|0.1329:0.867:0.0:0.0	.|.	.|449;602	.|B4DDU0;O75044	.|.;FNBP2_HUMAN	L|W	515|515;462;216	.|ENSP00000390898:R462W;ENSP00000403036:R216W	.|ENSP00000390898:R462W	P|R	+|+	2|1	0|2	SRGAP2|SRGAP2	204679984|204679984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.356000|3.356000	0.52269|0.52269	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	CCG|CGG	-	NULL		0.483	SRGAP2-201	KNOWN	basic	protein_coding	SRGAP2	protein_coding		C	NM_015326		204679984	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_015326	genbank	human	validated	54_36p	missense	SNP	1.000	T
MARCH4	57574	genome.wustl.edu	37	2	217142512	217142512	+	Missense_Mutation	SNP	C	C	T	rs367784136		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr2:217142512C>T	ENST00000273067.4	-	3	2514	c.748G>A	c.(748-750)Gcc>Acc	p.A250T		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	250						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A250S(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAATACTGGCGATGAGGAAG	0.557																																																1	Substitution - Missense(1)	lung(1)	2						C	THR/ALA	0,4406		0,0,2203	108.0	94.0	99.0		748	5.2	1.0	2		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	MARCH4	NM_020814.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	250/411	217142512	1,13005	2203	4300	6503	216850757	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.748G>A	2.37:g.217142512C>T	ENSP00000273067:p.Ala250Thr		216850757	Q4KMN7|Q86WR8	Missense_Mutation	SNP	HMMSmart_RINGv,HMMPfam_zf-C3HC4	p.A250T	ENST00000273067.4	37	c.748	CCDS33376.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.273261	0.95429	0.0	1.16E-4	ENSG00000144583	ENST00000273067	T	0.59224	0.28	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71764	-0.4494	10	0.28530	T	0.3	-1.2002	17.829	0.88674	0.0:1.0:0.0:0.0	.	250	Q9P2E8	MARH4_HUMAN	T	250	ENSP00000273067:A250T	ENSP00000273067:A250T	A	-	1	0	MARCH4	216850757	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.465000	0.83290	0.655000	0.94253	GCC	-	NULL		0.557	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	protein_coding	OTTHUMT00000337272.2	C	NM_020814		216850757	-1	no_errors	NM_020814	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF142	7701	genome.wustl.edu	37	2	219506971	219506971	+	Missense_Mutation	SNP	G	G	A	rs374493212		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr2:219506971G>A	ENST00000449707.1	-	8	4689	c.4268C>T	c.(4267-4269)cCg>cTg	p.P1423L	ZNF142_ENST00000411696.2_Missense_Mutation_p.P1423L	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGTGTAGCGGGGGCTGGCC	0.597																																					Colon(170;867 1942 8995 15834 18053)											0			2							LEU/PRO	0,4152		0,0,2076	82.0	93.0	89.0		4268	3.8	0.5	2		89	1,8419		0,1,4209	no	missense	ZNF142	NM_001105537.1	98	0,1,6285	AA,AG,GG		0.0119,0.0,0.0080	benign	1423/1688	219506971	1,12571	2076	4210	6286	219215215	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4268C>T	2.37:g.219506971G>A	ENSP00000408643:p.Pro1423Leu		219215215	Q92510	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.P1423L	ENST00000449707.1	37	c.4268	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	g	11.73	1.725287	0.30593	0.0	1.19E-4	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.01745	4.66;4.66	5.62	3.84	0.44239	.	0.447307	0.27961	N	0.017145	T	0.02230	0.0069	L	0.42686	1.345	0.41976	D	0.990775	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.49899	-0.8890	10	0.62326	D	0.03	-1.4594	9.706	0.40216	0.2091:0.0:0.7909:0.0	.	1423;1260	P52746;A8MWU9	ZN142_HUMAN;.	L	1423	ENSP00000408643:P1423L;ENSP00000398798:P1423L	ENSP00000398798:P1423L	P	-	2	0	ZNF142	219215215	1.000000	0.71417	0.515000	0.27774	0.754000	0.42855	3.688000	0.54699	0.945000	0.37605	-0.162000	0.13425	CCG	-	superfamily_C2H2 and C2HC zinc fingers		0.597	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	protein_coding	OTTHUMT00000336833.1	G	NM_005081		219215215	-1	no_errors	NM_001105537	genbank	human	validated	54_36p	missense	SNP	0.944	A
PI4K2B	55300	genome.wustl.edu	37	4	25260711	25260711	+	Frame_Shift_Del	DEL	T	T	-			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr4:25260711delT	ENST00000264864.6	+	5	998	c.809delT	c.(808-810)cttfs	p.L270fs	PI4K2B_ENST00000512921.1_Frame_Shift_Del_p.L174fs	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	270	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAATATTGGCTTAGGAAATTT	0.313																																																0			4											71.0	74.0	73.0					4																	25260711		2203	4298	6501	24869809	SO:0001589	frameshift_variant	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.809delT	4.37:g.25260711delT	ENSP00000264864:p.Leu270fs		24869809	Q9NUW2	Frame_Shift_Del	DEL	PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_PI3_PI4_kinase	p.R271fs	ENST00000264864.6	37	c.809	CCDS3433.1	4																																																																																			(deletion:cds_exon[24869757,24869910])	HMMPfam_PI3_PI4_kinase		0.313	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2B	protein_coding	OTTHUMT00000250415.1	T	NM_018323		24869809	+1	no_errors	NM_018323	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-
PNN	5411	genome.wustl.edu	37	14	39650119	39650119	+	Frame_Shift_Del	DEL	C	C	-	rs2737727		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr14:39650119delC	ENST00000216832.4	+	9	1273	c.1206delC	c.(1204-1206)gacfs	p.D402fs	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	402	Glu-rich.			DQ -> EE (in Ref. 3; AAG33941). {ECO:0000305}.	cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TAATTGCTGACCAGGAGGTAA	0.403																																																0			14											120.0	105.0	110.0					14																	39650119		2203	4300	6503	38719870	SO:0001589	frameshift_variant	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1206delC	14.37:g.39650119delC	ENSP00000216832:p.Asp402fs		38719870	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Frame_Shift_Del	DEL	HMMPfam_Pinin_SDK_N,HMMPfam_Pinin_SDK_memA	p.Q403fs	ENST00000216832.4	37	c.1206	CCDS9671.1	14																																																																																			(deletion:cds_exon[38719458,38720818])	NULL		0.403	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	protein_coding	OTTHUMT00000276776.2	C	NM_002687		38719870	+1	no_errors	NM_002687	genbank	human	validated	54_36p	frame_shift_del	DEL	0.998	-
FLG2	388698	genome.wustl.edu	37	1	152323741	152323741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr1:152323741delC	ENST00000388718.5	-	3	6593	c.6521delG	c.(6520-6522)ggafs	p.G2174fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2174					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTTGTCTTCCAGTTGTCCT	0.522																																																0			1											357.0	313.0	328.0					1																	152323741		2203	4300	6503	150590365	SO:0001589	frameshift_variant	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6521delG	1.37:g.152323741delC	ENSP00000373370:p.Gly2174fs		150590365	Q9H4U1	Frame_Shift_Del	DEL	superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin	p.G2174fs	ENST00000388718.5	37	c.6521	CCDS30861.1	1																																																																																			(deletion:cds_exon[150589710,150596747])	NULL		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		150590365	-1	no_errors	NM_001014342	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.000	-
