#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
ANGPT4	51378	genome.wustl.edu	37	20	858964	858964	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr20:858964C>T	ENST00000381922.3	-	7	1162	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G354R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	354	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTGGGTCTCCGAAGCCCTAT	0.637																																					Pancreas(181;481 2077 3259 31286 49856)	dbGAP											0													32.0	30.0	31.0					20																	858964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1060G>A	20.37:g.858964C>T	ENSP00000371347:p.Gly354Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G354R	ENST00000381922.3	37	c.1060	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387445	0.82902	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.79352	-0.7;-1.26	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95577	0.8643	10	0.87932	D	0	.	18.5685	0.91126	0.0:1.0:0.0:0.0	.	354;354	B4E3J9;Q9Y264	.;ANGP4_HUMAN	R	354	ENSP00000371347:G354R;ENSP00000439605:G354R	ENSP00000371347:G354R	G	-	1	0	ANGPT4	806964	1.000000	0.71417	0.997000	0.53966	0.587000	0.36485	5.875000	0.69660	2.861000	0.98227	0.655000	0.94253	GGA	ANGPT4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000101280		0.637	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	22	0.00	0	C	NM_015985		858964	858964	-1	no_errors	ENST00000381922	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	T
APBB1	322	genome.wustl.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000311051.3_In_Frame_Del_p.E162del|APBB1_ENST00000389906.2_In_Frame_Del_p.E162del|APBB1_ENST00000299402.6_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	dbGAP											1	Substitution - Missense(1)	prostate(1)																																								-	-	-	SO:0001651	inframe_deletion	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del	Somatic		WXS	Illumina GAIIx	Phase_IV	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.E162in_frame_del	ENST00000609360.1	37	c.488_486		11																																																																																			APBB1	-	NULL	ENSG00000166313		0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	36	0.00	0	TCC	NM_001164		6432090	6432092	-1	no_errors	ENST00000389906	ensembl	human	known	69_37n	in_frame_del	32	11.11	4	DEL	0.972:0.985:0.889	-
C14orf80	283643	genome.wustl.edu	37	14	105960224	105960224	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr14:105960224C>T	ENST00000392523.4	+	5	759	c.638C>T	c.(637-639)tCt>tTt	p.S213F	C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000392522.3_Missense_Mutation_p.S213F|C14orf80_ENST00000450383.1_Missense_Mutation_p.S35F|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000354560.6_Intron|C14orf80_ENST00000551054.1_Intron|C14orf80_ENST00000329886.7_Intron			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	213										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		AGCCATCTGTCTGTCACTGAA	0.642																																						dbGAP											0													50.0	39.0	43.0					14																	105960224		2200	4299	6499	-	-	-	SO:0001583	missense	0				CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.638C>T	14.37:g.105960224C>T	ENSP00000376308:p.Ser213Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Missense_Mutation	SNP	NULL	p.S213F	ENST00000392523.4	37	c.638		14	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327717	0.41197	.	.	ENSG00000185347	ENST00000455454;ENST00000432805;ENST00000421892;ENST00000392522;ENST00000392523;ENST00000548920;ENST00000450383	.	.	.	3.37	3.37	0.38596	.	0.000000	0.64402	D	0.000002	T	0.66771	0.2823	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.994;0.996;0.996	T	0.69273	-0.5188	9	0.87932	D	0	-8.8363	10.4082	0.44276	0.0:1.0:0.0:0.0	.	161;213;213	C9JZD4;E9PAQ4;Q86SX3	.;.;CN080_HUMAN	F	172;172;87;213;213;142;35	.	ENSP00000376307:S213F	S	+	2	0	C14orf80	105031269	0.056000	0.20664	0.991000	0.47740	0.196000	0.23810	1.668000	0.37481	1.858000	0.53909	0.557000	0.71058	TCT	C14orf80	-	NULL	ENSG00000185347		0.642	C14orf80-017	KNOWN	basic	protein_coding	C14orf80	HGNC	protein_coding	OTTHUMT00000409090.1	26	0.00	0	C	NM_001134875		105960224	105960224	+1	no_errors	ENST00000392523	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.998	T
NDUFAF7	55471	genome.wustl.edu	37	2	37458853	37458853	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr2:37458853G>A	ENST00000002125.4	+	1	45	c.5G>A	c.(4-6)aGt>aAt	p.S2N	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.S2N|CEBPZ_ENST00000234170.5_5'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	2					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										TTCAGCATGAGTGTACTGCTG	0.637																																						dbGAP											0													69.0	61.0	64.0					2																	37458853		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.5G>A	2.37:g.37458853G>A	ENSP00000002125:p.Ser2Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z399|Q9P1G3	Missense_Mutation	SNP	pfam_MidA	p.S2N	ENST00000002125.4	37	c.5	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517639	0.27123	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.47528	0.9;0.84	4.68	0.737	0.18314	.	1.106640	0.06966	N	0.817140	T	0.31040	0.0784	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.21621	-1.0240	10	0.31617	T	0.26	2.2155	2.0361	0.03540	0.1793:0.1551:0.5056:0.16	.	2;2;2;2	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	N	2	ENSP00000002125:S2N;ENSP00000337431:S2N	ENSP00000002125:S2N	S	+	2	0	C2orf56	37312357	0.003000	0.15002	0.128000	0.21923	0.041000	0.13682	0.292000	0.19011	-0.042000	0.13535	-0.224000	0.12420	AGT	C2orf56	-	NULL	ENSG00000003509		0.637	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf56	HGNC	protein_coding	OTTHUMT00000250267.1	75	0.00	0	G	NM_144736		37458853	37458853	+1	no_errors	ENST00000002125	ensembl	human	known	69_37n	missense	74	30.84	33	SNP	0.794	A
CALML5	51806	genome.wustl.edu	37	10	5541283	5541283	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr10:5541283G>A	ENST00000380332.3	-	1	250	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTTCTTGCCCGTGGCCTTCAG	0.622																																					GBM(149;1055 3356 43077)	dbGAP											0													88.0	90.0	89.0					10																	5541283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"""EF-hand domain containing"""	18180	protein-coding gene	gene with protein product	"""calmodulin-like skin protein"""	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.119C>T	10.37:g.5541283G>A	ENSP00000369689:p.Thr40Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQI3|Q8IXU8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T40M	ENST00000380332.3	37	c.119	CCDS7068.1	10	.	.	.	.	.	.	.	.	.	.	g	12.75	2.031053	0.35797	.	.	ENSG00000178372	ENST00000380332	T	0.36699	1.24	4.49	2.08	0.27032	EF-hand-like domain (1);	0.652316	0.13409	N	0.389992	T	0.12817	0.0311	N	0.01197	-0.965	0.26060	N	0.981363	B	0.02656	0.0	B	0.01281	0.0	T	0.20009	-1.0288	10	0.87932	D	0	-14.1882	6.0045	0.19539	0.748:0.1632:0.0887:0.0	.	40	Q9NZT1	CALL5_HUMAN	M	40	ENSP00000369689:T40M	ENSP00000369689:T40M	T	-	2	0	CALML5	5531283	1.000000	0.71417	0.149000	0.22428	0.002000	0.02628	5.899000	0.69846	0.286000	0.22352	-0.285000	0.09966	ACG	CALML5	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000178372		0.622	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML5	HGNC	protein_coding	OTTHUMT00000046556.1	37	0.00	0	G	NM_017422		5541283	5541283	-1	no_errors	ENST00000380332	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.980	A
CEL	1056	genome.wustl.edu	37	9	135944195	135944195	+	Silent	SNP	C	C	T	rs201748116	byFrequency	TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr9:135944195C>T	ENST00000372080.4	+	8	1057	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	CEL_ENST00000351304.7_Silent_p.F344F	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	344					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCACATCTTCGCCAGCATCG	0.602																																						dbGAP											0													6.0	8.0	7.0					9																	135944195		1754	3968	5722	-	-	-	SO:0001819	synonymous_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1041C>T	9.37:g.135944195C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.F347	ENST00000372080.4	37	c.1041	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.602	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	22	0.00	0	C			135944195	135944195	+1	no_errors	ENST00000372080	ensembl	human	known	69_37n	silent	10	23.08	3	SNP	0.979	T
CHADL	150356	genome.wustl.edu	37	22	41632585	41632585	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr22:41632585G>A	ENST00000216241.9	-	4	2018	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W		NM_138481.1	NP_612490.1	Q6NUI6	CHADL_HUMAN	chondroadherin-like	656						proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(1)|skin(1)	4						GGCAGGGCCCGAAGCTGGTTC	0.637																																						dbGAP											0													24.0	30.0	28.0					22																	41632585		692	1591	2283	-	-	-	SO:0001583	missense	0			BC012882	CCDS46715.1	22q13.2	2008-10-31			ENSG00000100399	ENSG00000100399			25165	protein-coding gene	gene with protein product						12477932	Standard	NM_138481		Approved	SLRR4B	uc003azq.4	Q6NUI6	OTTHUMG00000150936	ENST00000216241.9:c.1966C>T	22.37:g.41632585G>A	ENSP00000216241:p.Arg656Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05CY2|Q4G0S0|Q5JY13|Q86XY1|Q96E60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R656W	ENST00000216241.9	37	c.1966	CCDS46715.1	22	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176743	0.78564	.	.	ENSG00000100399	ENST00000216241;ENST00000455425	T;T	0.58210	0.35;0.35	5.19	2.89	0.33648	.	0.447998	0.24759	N	0.035837	T	0.56645	0.1999	M	0.76433	2.335	0.22479	N	0.999068	D;D	0.67145	0.99;0.996	P;P	0.49301	0.514;0.606	T	0.53365	-0.8449	10	0.72032	D	0.01	.	8.2605	0.31781	0.083:0.0:0.6845:0.2325	.	656;656	Q6NUI6-2;Q6NUI6	.;CHADL_HUMAN	W	656;153	ENSP00000216241:R656W;ENSP00000412359:R153W	ENSP00000216241:R656W	R	-	1	2	CHADL	39962531	0.744000	0.28250	0.739000	0.30968	0.916000	0.54674	1.084000	0.30828	1.270000	0.44297	0.650000	0.86243	CGG	CHADL	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000100399		0.637	CHADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHADL	HGNC	protein_coding	OTTHUMT00000320597.1	25	0.00	0	G	NM_138481		41632585	41632585	-1	no_errors	ENST00000216241	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	0.973	A
CNP	1267	genome.wustl.edu	37	17	40125630	40125630	+	Silent	SNP	A	A	C			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr17:40125630A>C	ENST00000393892.3	+	4	1098	c.954A>C	c.(952-954)tcA>tcC	p.S318S	CNP_ENST00000393888.1_Silent_p.S298S|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Silent_p.S83S	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	318					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		ACAAGCTGTCACCCACTGACA	0.622																																						dbGAP											0													53.0	63.0	60.0					17																	40125630		2049	4185	6234	-	-	-	SO:0001819	synonymous_variant	0				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.954A>C	17.37:g.40125630A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	p.S318	ENST00000393892.3	37	c.954	CCDS11414.2	17																																																																																			CNP	-	pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	ENSG00000173786		0.622	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	HGNC	protein_coding	OTTHUMT00000257443.2	34	0.00	0	A			40125630	40125630	+1	no_errors	ENST00000393892	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.000	C
EXOC2	55770	genome.wustl.edu	37	6	497489	497489	+	Splice_Site	SNP	C	C	T			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr6:497489C>T	ENST00000230449.4	-	25	2572	c.2437G>A	c.(2437-2439)Gtg>Atg	p.V813M	EXOC2_ENST00000448181.3_Splice_Site_p.V408M	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	813					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ATGGTGAACACCTGGTTTGAA	0.393																																						dbGAP											0													137.0	133.0	134.0					6																	497489		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2437-1G>A	6.37:g.497489C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.V813M	ENST00000230449.4	37	c.2437	CCDS34327.1	6	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448593	0.63178	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.26957	1.7;1.7	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.38866	-0.9641	10	0.56958	D	0.05	-15.2919	14.8635	0.70399	0.0:0.931:0.0:0.069	.	813	Q96KP1	EXOC2_HUMAN	M	813;408	ENSP00000230449:V813M;ENSP00000398113:V408M	ENSP00000230449:V813M	V	-	1	0	EXOC2	442489	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	7.487000	0.81328	1.472000	0.48140	0.650000	0.86243	GTG	EXOC2	-	NULL	ENSG00000112685		0.393	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	32	0.00	0	C	NM_018303	Missense_Mutation	497489	497489	-1	no_errors	ENST00000230449	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	T
FOXA3	3171	genome.wustl.edu	37	19	46376150	46376150	+	Missense_Mutation	SNP	C	C	T	rs200491833		TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr19:46376150C>T	ENST00000302177.2	+	2	1084	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	296					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AAGCTGGACGCGCCCTACAAC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		13497	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													60.0	55.0	57.0					19																	46376150		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.887C>T	19.37:g.46376150C>T	ENSP00000304004:p.Ala296Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A296V	ENST00000302177.2	37	c.887	CCDS12677.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.325	0.617793	0.14129	.	.	ENSG00000170608	ENST00000302177	D	0.91124	-2.79	4.38	2.26	0.28386	.	0.441952	0.22199	N	0.063276	T	0.78767	0.4335	N	0.12182	0.205	0.25101	N	0.990785	B	0.06786	0.001	B	0.04013	0.001	T	0.65697	-0.6105	10	0.27785	T	0.31	.	8.4863	0.33074	0.0:0.8005:0.0:0.1995	.	296	P55318	FOXA3_HUMAN	V	296	ENSP00000304004:A296V	ENSP00000304004:A296V	A	+	2	0	FOXA3	51067990	0.041000	0.20044	0.132000	0.22025	0.520000	0.34377	1.105000	0.31086	1.188000	0.43014	0.579000	0.79373	GCG	FOXA3	-	NULL	ENSG00000170608		0.602	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA3	HGNC	protein_coding	OTTHUMT00000461682.1	24	0.00	0	C			46376150	46376150	+1	no_errors	ENST00000302177	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.918	T
GBA	2629	genome.wustl.edu	37	1	155207291	155207291	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr1:155207291C>G	ENST00000327247.5	-	8	1072	c.840G>C	c.(838-840)ttG>ttC	p.L280F	GBA_ENST00000536770.1_Missense_Mutation_p.L167F|GBA_ENST00000427500.3_Missense_Mutation_p.L231F|GBA_ENST00000428024.3_Missense_Mutation_p.L193F|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000368373.3_Missense_Mutation_p.L280F	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	280					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGTATCCACTCAACAGCCCAG	0.537									Gaucher disease type I																													dbGAP											0													57.0	47.0	50.0					1																	155207291		2202	4279	6481	-	-	-	SO:0001583	missense	0	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.840G>C	1.37:g.155207291C>G	ENSP00000314508:p.Leu280Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30	p.L280F	ENST00000327247.5	37	c.840	CCDS1102.1	1	.	.	.	.	.	.	.	.	.	.	.	0.459	-0.889890	0.02511	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62	3.51	-7.02	0.01589	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.123250	0.07005	N	0.824159	D	0.90024	0.6885	N	0.16066	0.365	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.002	D	0.91138	0.4943	10	0.19590	T	0.45	-34.6885	3.5798	0.07947	0.1535:0.2748:0.4444:0.1273	.	231;167;280	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	F	231;193;280;280;167;237;265	ENSP00000402577:L231F;ENSP00000397986:L193F;ENSP00000357357:L280F;ENSP00000314508:L280F;ENSP00000445560:L167F	ENSP00000314508:L280F	L	-	3	2	GBA	153473915	0.001000	0.12720	0.001000	0.08648	0.761000	0.43186	-1.302000	0.02746	-1.535000	0.01740	0.313000	0.20887	TTG	GBA	-	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF	ENSG00000177628		0.537	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	HGNC	protein_coding	OTTHUMT00000087204.1	55	0.00	0	C	NM_000157		155207291	155207291	-1	no_errors	ENST00000327247	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	0.006	G
HERPUD2	64224	genome.wustl.edu	37	7	35712884	35712884	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr7:35712884G>A	ENST00000396081.1	-	2	956	c.152C>T	c.(151-153)aCg>aTg	p.T51M	HERPUD2_ENST00000311350.3_Missense_Mutation_p.T51M	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	51	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CTGATCCTTCGTCAACTAAGA	0.373																																						dbGAP											0													95.0	93.0	94.0					7																	35712884		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.152C>T	7.37:g.35712884G>A	ENSP00000379390:p.Thr51Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.T51M	ENST00000396081.1	37	c.152	CCDS5446.1	7	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099106	0.76983	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.72725	-0.68;-0.68	4.86	4.86	0.63082	Ubiquitin supergroup (1);Ubiquitin (2);	0.213014	0.50627	D	0.000117	T	0.78792	0.4339	L	0.42245	1.32	0.44523	D	0.997472	D	0.89917	1.0	D	0.66602	0.945	T	0.79470	-0.1790	10	0.51188	T	0.08	-11.3818	18.1837	0.89786	0.0:0.0:1.0:0.0	.	51	Q9BSE4	HERP2_HUMAN	M	51	ENSP00000379390:T51M;ENSP00000310729:T51M	ENSP00000310729:T51M	T	-	2	0	HERPUD2	35679409	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.024000	0.88770	2.525000	0.85131	0.585000	0.79938	ACG	HERPUD2	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000122557		0.373	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	48	0.00	0	G	NM_022373		35712884	35712884	-1	no_errors	ENST00000311350	ensembl	human	known	69_37n	missense	49	10.91	6	SNP	0.998	A
KRT28	162605	genome.wustl.edu	37	17	38950160	38950160	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr17:38950160A>G	ENST00000306658.7	-	6	1182	c.1117T>C	c.(1117-1119)Tat>Cat	p.Y373H		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGATGCTCATACTCCAGCTTC	0.527																																					Melanoma(19;789 869 15380 26882 39836)	dbGAP											0													154.0	149.0	150.0					17																	38950160		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1117T>C	17.37:g.38950160A>G	ENSP00000305263:p.Tyr373His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Y373H	ENST00000306658.7	37	c.1117	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469033	0.26335	.	.	ENSG00000173908	ENST00000306658	D	0.96774	-4.12	5.7	1.78	0.24846	Filament (1);	0.469877	0.20087	N	0.099523	D	0.95535	0.8549	M	0.79011	2.435	0.31987	N	0.6051	B	0.33612	0.419	B	0.40825	0.341	D	0.93607	0.6935	10	0.51188	T	0.08	.	8.4719	0.32991	0.7296:0.0:0.2704:0.0	.	373	Q7Z3Y7	K1C28_HUMAN	H	373	ENSP00000305263:Y373H	ENSP00000305263:Y373H	Y	-	1	0	KRT28	36203686	1.000000	0.71417	0.598000	0.28837	0.248000	0.25809	4.482000	0.60257	0.077000	0.16863	-0.263000	0.10527	TAT	KRT28	-	pfam_F	ENSG00000173908		0.527	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	106	0.00	0	A	NM_181535		38950160	38950160	-1	no_errors	ENST00000306658	ensembl	human	known	69_37n	missense	67	11.69	9	SNP	1.000	G
MUC4	4585	genome.wustl.edu	37	3	195506293	195506293	+	Missense_Mutation	SNP	T	T	C	rs199596856	byFrequency	TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr3:195506293T>C	ENST00000463781.3	-	2	12617	c.12158A>G	c.(12157-12159)aAt>aGt	p.N4053S	MUC4_ENST00000475231.1_Missense_Mutation_p.N4053S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGCATTGGTGACAGG	0.577													.|||	418	0.0834665	0.0522	0.062	5008	,	,		9525	0.0417		0.171	False		,,,				2504	0.0941					dbGAP											0													41.0	23.0	29.0					3																	195506293		574	1194	1768	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12158A>G	3.37:g.195506293T>C	ENSP00000417498:p.Asn4053Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.N4053S	ENST00000463781.3	37	c.12158	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	N	0.089	-1.169754	0.01660	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.26957	1.7;1.75	.	.	.	.	.	.	.	.	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32640	-0.9899	7	.	.	.	.	1.4093	0.02287	0.3443:0.325:0.0:0.3307	.	3925	E7ESK3	.	S	4053	ENSP00000417498:N4053S;ENSP00000420243:N4053S	.	N	-	2	0	MUC4	196991072	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.657000	0.00401	-0.423000	0.07394	0.055000	0.15244	AAT	MUC4	-	NULL	ENSG00000145113		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	52	0.00	0	T	NM_018406		195506293	195506293	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	68	10.26	8	SNP	0.001	C
NDFIP2	54602	genome.wustl.edu	37	13	80113888	80113888	+	Silent	SNP	C	C	A			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr13:80113888C>A	ENST00000218652.7	+	4	745	c.693C>A	c.(691-693)ggC>ggA	p.G231G		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	231					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GGAATGATGGCATTTTCATGC	0.378																																						dbGAP											0													190.0	174.0	180.0					13																	80113888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.693C>A	13.37:g.80113888C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	pfam_NEDD4/BSD2	p.A147E	ENST00000218652.7	37	c.440	CCDS31998.1	13																																																																																			NDFIP2	-	pfam_NEDD4/BSD2	ENSG00000102471		0.378	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP2	HGNC	protein_coding	OTTHUMT00000045380.2	126	0.00	0	C			80113888	80113888	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465762	ensembl	human	known	69_37n	missense	89	10.00	10	SNP	0.947	A
PANK1	53354	genome.wustl.edu	37	10	91353062	91353062	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr10:91353062C>T	ENST00000307534.4	-	5	1658	c.1503G>A	c.(1501-1503)atG>atA	p.M501I	PANK1_ENST00000322191.6_Missense_Mutation_p.M217I|PANK1_ENST00000371774.2_Missense_Mutation_p.M303I|PANK1_ENST00000342512.3_Missense_Mutation_p.M276I|MIR107_ENST00000362127.1_RNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	501					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTTCTTTACTCATCATGTTGC	0.502																																						dbGAP											0													176.0	154.0	161.0					10																	91353062		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1503G>A	10.37:g.91353062C>T	ENSP00000302108:p.Met501Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.M501I	ENST00000307534.4	37	c.1503	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	5.517	0.280356	0.10458	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99429	-5.89;-5.76;-5.89;-5.89	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	N	0.11364	0.135	0.80722	D	1	B;B;B;B	0.23058	0.0;0.079;0.0;0.0	B;B;B;B	0.22880	0.001;0.042;0.002;0.001	D	0.95999	0.8992	10	0.14656	T	0.56	.	19.9417	0.97165	0.0:1.0:0.0:0.0	.	303;501;217;276	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	I	276;217;303;501;364	ENSP00000345118:M276I;ENSP00000318526:M217I;ENSP00000360839:M303I;ENSP00000302108:M501I	ENSP00000302108:M501I	M	-	3	0	PANK1	91343042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.720000	0.93068	0.655000	0.94253	ATG	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000152782		0.502	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		109	0.00	0	C			91353062	91353062	-1	no_errors	ENST00000307534	ensembl	human	known	69_37n	missense	83	12.63	12	SNP	1.000	T
PHC2	1912	genome.wustl.edu	37	1	33797902	33797902	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr1:33797902G>A	ENST00000257118.5	-	10	1915	c.1862C>T	c.(1861-1863)tCg>tTg	p.S621L	PHC2_ENST00000419414.2_Missense_Mutation_p.S622L|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.S227L|PHC2_ENST00000431992.1_Missense_Mutation_p.S592L|PHC2_ENST00000373416.1_Missense_Mutation_p.S86L|PHC2_ENST00000373418.3_Missense_Mutation_p.S86L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	621					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCCATCTCCGAGTCAGTGGT	0.582																																						dbGAP											0													184.0	158.0	167.0					1																	33797902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1862C>T	1.37:g.33797902G>A	ENSP00000257118:p.Ser621Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.S622L	ENST00000257118.5	37	c.1865	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.528686	0.96446	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52	6.17	6.17	0.99709	.	0.175237	0.52532	D	0.000070	T	0.73822	0.3636	M	0.78049	2.395	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.992;0.992;0.996	T	0.69569	-0.5110	10	0.33940	T	0.23	-14.4186	18.3732	0.90420	0.0:0.0:1.0:0.0	.	622;593;621;36	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	L	592;621;227;86;199;622;86	ENSP00000389436:S592L;ENSP00000257118:S621L;ENSP00000362521:S227L;ENSP00000362517:S86L;ENSP00000391440:S622L;ENSP00000362515:S86L	ENSP00000257118:S621L	S	-	2	0	PHC2	33570489	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.893000	0.87330	2.941000	0.99782	0.655000	0.94253	TCG	PHC2	-	NULL	ENSG00000134686		0.582	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	87	0.00	0	G	NM_198040		33797902	33797902	-1	no_errors	ENST00000419414	ensembl	human	known	69_37n	missense	70	14.63	12	SNP	0.999	A
PIK3CA	5290	genome.wustl.edu	37	3	178952063	178952063	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr3:178952063A>G	ENST00000263967.3	+	21	3275	c.3118A>G	c.(3118-3120)Atg>Gtg	p.M1040V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1040	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1040L(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGAGTATTTCATGAAACAAAT	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	endometrium(1)											94.0	84.0	88.0					3																	178952063		1894	4124	6018	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3118A>G	3.37:g.178952063A>G	ENSP00000263967:p.Met1040Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.M1040V	ENST00000263967.3	37	c.3118	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177661	0.38413	.	.	ENSG00000121879	ENST00000263967	T	0.80304	-1.36	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.092427	0.85682	D	0.000000	T	0.67401	0.2889	N	0.10809	0.05	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.62402	-0.6862	10	0.36615	T	0.2	-8.843	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1040	P42336	PK3CA_HUMAN	V	1040	ENSP00000263967:M1040V	ENSP00000263967:M1040V	M	+	1	0	PIK3CA	180434757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	38	0.00	0	A			178952063	178952063	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	40	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	1.000	T
RABL2B	11158	genome.wustl.edu	37	22	51220689	51220689	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr22:51220689C>G	ENST00000395598.3	-	2	245	c.34G>C	c.(34-36)Gac>Cac	p.D12H	RABL2B_ENST00000395591.1_Missense_Mutation_p.D12H|RABL2B_ENST00000395590.1_Missense_Mutation_p.D12H|RABL2B_ENST00000354869.3_Missense_Mutation_p.D12H|RABL2B_ENST00000435118.1_Missense_Mutation_p.D12H|AC002055.4_ENST00000480246.1_RNA|RABL2B_ENST00000395595.3_Missense_Mutation_p.D12H|RABL2B_ENST00000395593.3_Missense_Mutation_p.D12H	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	12					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCCTTGGTCCAACTCACTC	0.502																																					GBM(148;358 1894 4987 13698 40400)	dbGAP											0													15.0	18.0	17.0					22																	51220689		2158	4242	6400	-	-	-	SO:0001583	missense	0				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.34G>C	22.37:g.51220689C>G	ENSP00000378962:p.Asp12His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZT8|Q96C33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D12H	ENST00000395598.3	37	c.34	CCDS14102.1	22	.	.	.	.	.	.	.	.	.	.	.	14.06	2.422702	0.43020	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395591;ENST00000395595;ENST00000395590;ENST00000413505	T;T;T;T;T;T;T	0.78595	-0.81;-0.8;-0.93;-0.81;-1.19;-0.8;-1.14	2.23	2.23	0.28157	.	0.192495	0.42420	U	0.000713	T	0.80221	0.4583	L	0.50333	1.59	0.40561	D	0.981214	P;P;P	0.51057	0.941;0.883;0.928	P;P;P	0.58970	0.849;0.535;0.725	T	0.80358	-0.1416	10	0.48119	T	0.1	.	10.5347	0.44996	0.0:1.0:0.0:0.0	.	12;12;12	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	H	12	ENSP00000401906:D12H;ENSP00000346940:D12H;ENSP00000378958:D12H;ENSP00000378962:D12H;ENSP00000378956:D12H;ENSP00000378960:D12H;ENSP00000378955:D12H	ENSP00000346940:D12H	D	-	1	0	RABL2B	49567555	1.000000	0.71417	0.999000	0.59377	0.304000	0.27724	3.148000	0.50647	1.558000	0.49541	0.455000	0.32223	GAC	RABL2B	-	NULL	ENSG00000079974		0.502	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2B	HGNC	protein_coding	OTTHUMT00000316606.1	74	0.00	0	C	NM_001003789		51220689	51220689	-1	no_errors	ENST00000354869	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	G
RIPK3	11035	genome.wustl.edu	37	14	24808688	24808688	+	Missense_Mutation	SNP	C	C	T	rs571257852		TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr14:24808688C>T	ENST00000216274.5	-	2	354	c.136G>A	c.(136-138)Gat>Aat	p.D46N	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ACCGCCACATCGTAGCCCCAC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15851	0.0		0.0	False		,,,				2504	0.001				Pancreas(58;918 1191 4668 13304 15331)	dbGAP											0													124.0	125.0	125.0					14																	24808688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.136G>A	14.37:g.24808688C>T	ENSP00000216274:p.Asp46Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D46N	ENST00000216274.5	37	c.136	CCDS9628.1	14	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321257	0.41096	.	.	ENSG00000129465	ENST00000216274	T	0.64618	-0.11	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.433153	0.19700	N	0.108043	T	0.51432	0.1674	L	0.33093	0.98	0.23572	N	0.997389	P;P	0.49090	0.919;0.668	B;B	0.40825	0.341;0.082	T	0.53613	-0.8414	10	0.56958	D	0.05	-7.4261	13.339	0.60535	0.0:1.0:0.0:0.0	.	46;46	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	N	46	ENSP00000216274:D46N	ENSP00000216274:D46N	D	-	1	0	RIPK3	23878528	0.009000	0.17119	0.381000	0.26106	0.233000	0.25261	0.888000	0.28268	2.518000	0.84900	0.561000	0.74099	GAT	RIPK3	-	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	ENSG00000129465		0.612	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	HGNC	protein_coding	OTTHUMT00000073203.4	63	0.00	0	C	NM_006871		24808688	24808688	-1	no_errors	ENST00000216274	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.378	T
RRBP1	6238	genome.wustl.edu	37	20	17639834	17639834	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr20:17639834T>C	ENST00000377813.1	-	3	1622	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.K440R			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	440	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTCGGCCTTCTTGCCCTGGTT	0.642																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1319A>G	20.37:g.17639834T>C	ENSP00000367044:p.Lys440Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.K440R	ENST00000377813.1	37	c.1319		20	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476573	0.26511	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.42513	0.97;0.97	4.66	2.37	0.29283	.	0.203139	0.24445	N	0.038471	T	0.44746	0.1308	.	.	.	0.50467	D	0.999879	.	.	.	.	.	.	T	0.21621	-1.0240	7	0.40728	T	0.16	-15.1084	8.065	0.30654	0.0:0.1767:0.0:0.8233	.	.	.	.	R	440	ENSP00000367044:K440R;ENSP00000246043:K440R	ENSP00000246043:K440R	K	-	2	0	RRBP1	17587834	0.000000	0.05858	0.018000	0.16275	0.000000	0.00434	-0.433000	0.06948	0.364000	0.24374	-1.243000	0.01532	AAG	RRBP1	-	NULL	ENSG00000125844		0.642	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	12	0.00	0	T	NM_001042576		17639834	17639834	-1	no_errors	ENST00000246043	ensembl	human	known	69_37n	missense	6	53.85	7	SNP	0.247	C
SEPT2	4735	genome.wustl.edu	37	2	242289558	242289558	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr2:242289558G>T	ENST00000391973.2	+	12	1583	c.1055G>T	c.(1054-1056)gGc>gTc	p.G352V	SEPT2_ENST00000402092.2_Missense_Mutation_p.G352V|SEPT2_ENST00000401990.1_Missense_Mutation_p.G362V|AC005104.3_ENST00000414896.1_RNA|SEPT2_ENST00000360051.3_Missense_Mutation_p.G352V|SEPT2_ENST00000407971.1_Missense_Mutation_p.G312V|SEPT2_ENST00000391971.2_Missense_Mutation_p.G352V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	352					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GGCGGGGATGGCGATGGCGGG	0.547																																						dbGAP											0													65.0	58.0	61.0					2																	242289558		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.1055G>T	2.37:g.242289558G>T	ENSP00000375834:p.Gly352Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2	p.G352V	ENST00000391973.2	37	c.1055	CCDS2548.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.10|11.10	1.537990|1.537990	0.27475|0.27475	.|.	.|.	ENSG00000168385|ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717|ENST00000451310	T;T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.67;0.67;0.66;0.8|.	6.17|6.17	4.36|4.36	0.52297|0.52297	.|.	0.417011|.	0.26414|.	N|.	0.024507|.	T|T	0.68467|0.68467	0.3004|0.3004	L|L	0.54323|0.54323	1.7|1.7	0.45634|0.45634	D|D	0.998565|0.998565	B;D;P|.	0.54047|.	0.05;0.964;0.901|.	B;P;P|.	0.47941|.	0.073;0.562;0.465|.	T|T	0.65800|0.65800	-0.6080|-0.6080	10|5	0.66056|.	D|.	0.02|.	.|.	15.9124|15.9124	0.79482|0.79482	0.0:0.2538:0.7462:0.0|0.0:0.2538:0.7462:0.0	.|.	387;312;352|.	Q15019-2;B5MCX3;Q15019|.	.;.;SEPT2_HUMAN|.	V|C	352;352;352;362;312;352;387;179|19	ENSP00000375834:G352V;ENSP00000353157:G352V;ENSP00000375832:G352V;ENSP00000385109:G362V;ENSP00000384525:G312V;ENSP00000385172:G352V;ENSP00000408296:G179V|.	ENSP00000353157:G352V|.	G|W	+|+	2|3	0|0	SEPT2|SEPT2	241938231|241938231	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.090000|0.090000	0.18270|0.18270	3.651000|3.651000	0.54431|0.54431	0.907000|0.907000	0.36646|0.36646	0.655000|0.655000	0.94253|0.94253	GGC|TGG	SEPT2	-	pirsf_Septin	ENSG00000168385		0.547	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	49	0.00	0	G	NM_006155		242289558	242289558	+1	no_errors	ENST00000360051	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	0.440	T
SIGLEC7	27036	genome.wustl.edu	37	19	51656410	51656410	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr19:51656410G>T	ENST00000317643.6	+	7	1381	c.1312G>T	c.(1312-1314)Gca>Tca	p.A438S	CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A345S|SIGLEC7_ENST00000600577.1_3'UTR	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	438					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GATCCAGTATGCACCCCTCAG	0.532																																						dbGAP											0													107.0	102.0	104.0					19																	51656410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.1312G>T	19.37:g.51656410G>T	ENSP00000323328:p.Ala438Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A438S	ENST00000317643.6	37	c.1312	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	13.28	2.191300	0.38707	.	.	ENSG00000168995	ENST00000317643;ENST00000305628	T;T	0.10573	2.86;2.86	2.64	1.57	0.23409	.	.	.	.	.	T	0.28797	0.0714	M	0.79805	2.47	0.09310	N	0.999993	D;D	0.89917	0.998;1.0	D;D	0.72338	0.97;0.977	T	0.06516	-1.0822	9	0.87932	D	0	.	5.2475	0.15504	0.1741:0.0:0.8259:0.0	.	345;438	Q9Y286-2;Q9Y286	.;SIGL7_HUMAN	S	438;345	ENSP00000323328:A438S;ENSP00000306757:A345S	ENSP00000306757:A345S	A	+	1	0	SIGLEC7	56348222	0.226000	0.23696	0.007000	0.13788	0.019000	0.09904	1.659000	0.37387	0.303000	0.22785	0.430000	0.28490	GCA	SIGLEC7	-	NULL	ENSG00000168995		0.532	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	49	0.00	0	G	NM_016543		51656410	51656410	+1	no_errors	ENST00000317643	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.047	T
SRL	6345	genome.wustl.edu	37	16	4245638	4245638	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr16:4245638T>G	ENST00000399609.3	-	5	538	c.526A>C	c.(526-528)Att>Ctt	p.I176L	SRL_ENST00000537996.1_Missense_Mutation_p.I134L	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	635	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGAACCTCAATGCCAATCAGC	0.507																																						dbGAP											0													121.0	119.0	120.0					16																	4245638		1893	4126	6019	-	-	-	SO:0001583	missense	0			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.526A>C	16.37:g.4245638T>G	ENSP00000382518:p.Ile176Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Dynamin_GTPase,pfam_GTP_binding_domain	p.I176L	ENST00000399609.3	37	c.526	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429890	0.62844	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.95307	-3.67;-3.67	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.93501	0.7926	L	0.27053	0.805	0.58432	D	0.999999	D	0.56746	0.977	D	0.67103	0.949	D	0.90106	0.4188	10	0.06099	T	0.92	-12.1838	15.3399	0.74287	0.0:0.0:0.0:1.0	.	176	Q86TD4-2	.	L	176;634;134	ENSP00000382518:I176L;ENSP00000440350:I134L	ENSP00000333285:I634L	I	-	1	0	SRL	4185639	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	4.930000	0.63462	2.257000	0.74773	0.533000	0.62120	ATT	SRL	-	pfam_Dynamin_GTPase,pfam_GTP_binding_domain	ENSG00000185739		0.507	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	43	0.00	0	T	XM_064152		4245638	4245638	-1	no_errors	ENST00000399609	ensembl	human	known	69_37n	missense	73	20.65	19	SNP	0.998	G
TASP1	55617	genome.wustl.edu	37	20	13415695	13415695	+	Silent	SNP	A	A	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr20:13415695A>G	ENST00000337743.4	-	12	1212	c.1092T>C	c.(1090-1092)ctT>ctC	p.L364L	TASP1_ENST00000539805.1_3'UTR|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	364					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ACTTACCTAGAAGTGTCTGCT	0.398																																						dbGAP											0													63.0	51.0	55.0					20																	13415695		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.1092T>C	20.37:g.13415695A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	pfam_Peptidase_T2	p.L364	ENST00000337743.4	37	c.1092	CCDS13116.1	20																																																																																			TASP1	-	NULL	ENSG00000089123		0.398	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	35	0.00	0	A	NM_017714		13415695	13415695	-1	no_errors	ENST00000337743	ensembl	human	known	69_37n	silent	42	12.50	6	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr17:7578427T>G	ENST00000269305.4	-	5	692	c.503A>C	c.(502-504)cAc>cCc	p.H168P	TP53_ENST00000359597.4_Missense_Mutation_p.H168P|TP53_ENST00000455263.2_Missense_Mutation_p.H168P|TP53_ENST00000445888.2_Missense_Mutation_p.H168P|TP53_ENST00000413465.2_Missense_Mutation_p.H168P|TP53_ENST00000420246.2_Missense_Mutation_p.H168P|TP53_ENST00000574684.1_5'UTR	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	168	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		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.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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)	CTCCGTCATGTGCTGTGACTG	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	53	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - compound substitution(2)|Insertion - Frameshift(1)	lung(10)|breast(8)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|upper_aerodigestive_tract(2)|liver(2)|skin(2)|ovary(2)|vulva(1)|soft_tissue(1)|endometrium(1)											54.0	54.0	54.0					17																	7578427		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.503A>C	17.37:g.7578427T>G	ENSP00000269305:p.His168Pro	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.H168P	ENST00000269305.4	37	c.503	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552943	0.45487	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99803	-6.82;-6.82;-6.82;-6.82;-6.82;-6.82;-6.82;-6.82	5.59	0.619	0.17630	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.433617	0.26390	N	0.024660	D	0.99597	0.9854	M	0.88105	2.93	0.43347	D	0.995406	D;D;P;D;D;P;D	0.67145	0.984;0.989;0.864;0.991;0.968;0.956;0.996	D;D;P;D;D;D;D	0.76071	0.922;0.987;0.743;0.982;0.987;0.975;0.966	D	0.98344	1.0540	10	0.87932	D	0	-5.8035	1.5779	0.02628	0.1555:0.1517:0.1294:0.5634	.	129;168;168;75;168;168;168	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	168;168;168;168;168;168;157;75;36;75;36	ENSP00000410739:H168P;ENSP00000352610:H168P;ENSP00000269305:H168P;ENSP00000398846:H168P;ENSP00000391127:H168P;ENSP00000391478:H168P;ENSP00000425104:H36P;ENSP00000423862:H75P	ENSP00000269305:H168P	H	-	2	0	TP53	7519152	1.000000	0.71417	0.001000	0.08648	0.147000	0.21601	5.155000	0.64900	-0.137000	0.11455	-0.256000	0.11100	CAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	34	0.00	0	T	NM_000546		7578427	7578427	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.995	G
ZC3H7A	29066	genome.wustl.edu	37	16	11856527	11856527	+	Splice_Site	SNP	C	C	G			TCGA-C8-A278-01A-11D-A167-09	TCGA-C8-A278-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7bc48524-1f69-4d85-9d16-6db7844543bd	e8b5251b-f5fe-4c0c-8428-a23e14177ff5	g.chr16:11856527C>G	ENST00000396516.2	-	16	2276	c.2079G>C	c.(2077-2079)caG>caC	p.Q693H	ZC3H7A_ENST00000575984.1_5'Flank|ZC3H7A_ENST00000355758.4_Splice_Site_p.Q693H			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	693						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AGAAAAATACCTGCGCTCCAG	0.418																																						dbGAP											0													115.0	98.0	104.0					16																	11856527		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2079+1G>C	16.37:g.11856527C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.Q693H	ENST00000396516.2	37	c.2079	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167641	0.78339	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10763	2.84;2.84	5.55	5.55	0.83447	.	0.105382	0.64402	D	0.000002	T	0.30792	0.0776	M	0.65975	2.015	0.80722	D	1	D;D	0.64830	0.994;0.989	D;P	0.66716	0.946;0.885	T	0.00360	-1.1790	9	.	.	.	.	16.6533	0.85222	0.0:1.0:0.0:0.0	.	414;693	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	H	693	ENSP00000347999:Q693H;ENSP00000379773:Q693H	.	Q	-	3	2	ZC3H7A	11764028	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.093000	0.71422	2.597000	0.87782	0.655000	0.94253	CAG	ZC3H7A	-	NULL	ENSG00000122299		0.418	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	59	0.00	0	C	NM_014153	Missense_Mutation	11856527	11856527	-1	no_errors	ENST00000355758	ensembl	human	known	69_37n	missense	80	13.04	12	SNP	1.000	G
