#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
ABRA	137735	genome.wustl.edu	37	8	107782189	107782189	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr8:107782189C>A	ENST00000311955.3	-	1	284	c.230G>T	c.(229-231)aGt>aTt	p.S77I		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.S77I(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTGGGGCACTCTGAGCTTT	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											101.0	100.0	100.0					8																	107782189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.230G>T	8.37:g.107782189C>A	ENSP00000311436:p.Ser77Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S77I	ENST00000311955.3	37	c.230	CCDS6305.1	8	.	.	.	.	.	.	.	.	.	.	C	1.498	-0.552862	0.03996	.	.	ENSG00000174429	ENST00000311955	D	0.93426	-3.22	5.08	0.994	0.19832	.	0.993512	0.08189	N	0.984193	D	0.88142	0.6357	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.74121	-0.3767	10	0.40728	T	0.16	.	2.6099	0.04888	0.1333:0.2909:0.3915:0.1844	.	77	Q8N0Z2	ABRA_HUMAN	I	77	ENSP00000311436:S77I	ENSP00000311436:S77I	S	-	2	0	ABRA	107851365	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.436000	0.06922	-0.104000	0.12154	0.655000	0.94253	AGT	ABRA	-	NULL	ENSG00000174429		0.572	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	136	0.00	0	C	NM_139166		107782189	107782189	-1	no_errors	ENST00000311955	ensembl	human	known	69_37n	missense	340	17.03	70	SNP	0.000	A
ADAMTS12	81792	genome.wustl.edu	37	5	33576497	33576497	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr5:33576497G>A	ENST00000504830.1	-	19	3969	c.3634C>T	c.(3634-3636)Ccc>Tcc	p.P1212S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1127S|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1212	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1212S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGCTGAAGGGTGGCCACCAG	0.537										HNSCC(64;0.19)																												dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	153.0	157.0					5																	33576497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3634C>T	5.37:g.33576497G>A	ENSP00000422554:p.Pro1212Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1212S	ENST00000504830.1	37	c.3634	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	0.429	-0.904410	0.02453	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59083	0.34;0.29	5.28	2.36	0.29203	.	0.957777	0.08765	N	0.897214	T	0.34424	0.0897	N	0.17082	0.46	0.09310	N	1	B;B	0.18310	0.027;0.016	B;B	0.16289	0.015;0.007	T	0.26780	-1.0093	10	0.07644	T	0.81	.	5.3813	0.16194	0.2224:0.0:0.6211:0.1565	.	1127;1212	P58397-3;P58397	.;ATS12_HUMAN	S	1212;1127	ENSP00000422554:P1212S;ENSP00000344847:P1127S	ENSP00000344847:P1127S	P	-	1	0	ADAMTS12	33612254	0.002000	0.14202	0.001000	0.08648	0.077000	0.17291	0.379000	0.20585	0.817000	0.34445	-0.122000	0.15005	CCC	ADAMTS12	-	NULL	ENSG00000151388		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	268	0.37	1	G	NM_030955		33576497	33576497	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	missense	268	10.67	32	SNP	0.000	A
ADAMTSL1	92949	genome.wustl.edu	37	9	18776871	18776871	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr9:18776871G>A	ENST00000380548.4	+	19	2983	c.2644G>A	c.(2644-2646)Gtg>Atg	p.V882M		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	882	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V882M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCTGCACTTCGTGGTGGGGGG	0.692																																						dbGAP											1	Substitution - Missense(1)	breast(1)											14.0	18.0	17.0					9																	18776871		2038	4174	6212	-	-	-	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2644G>A	9.37:g.18776871G>A	ENSP00000369921:p.Val882Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.V882M	ENST00000380548.4	37	c.2644	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051460	0.36181	.	.	ENSG00000178031	ENST00000380548	T	0.62941	-0.01	5.27	3.43	0.39272	Immunoglobulin-like (1);	0.063246	0.08080	U	1.000000	T	0.54319	0.1851	L	0.43646	1.37	0.24048	N	0.996056	B	0.20780	0.048	B	0.11329	0.006	T	0.46205	-0.9208	10	0.52906	T	0.07	.	8.3111	0.32071	0.3018:0.0:0.6982:0.0	.	882	Q8N6G6	ATL1_HUMAN	M	882	ENSP00000369921:V882M	ENSP00000369921:V882M	V	+	1	0	ADAMTSL1	18766871	0.636000	0.27207	0.132000	0.22025	0.549000	0.35272	1.912000	0.39946	0.611000	0.30052	0.563000	0.77884	GTG	ADAMTSL1	-	pfscan_Ig-like	ENSG00000178031		0.692	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	16	0.00	0	G			18776871	18776871	+1	no_errors	ENST00000380548	ensembl	human	novel	69_37n	missense	10	56.52	13	SNP	0.171	A
APOL5	80831	genome.wustl.edu	37	22	36116635	36116635	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr22:36116635G>A	ENST00000249044.2	+	2	76	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	26					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.E26K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGTTGTAAAGAAATGTGGCT	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											83.0	72.0	76.0					22																	36116635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.76G>A	22.37:g.36116635G>A	ENSP00000249044:p.Glu26Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.E26K	ENST00000249044.2	37	c.76	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277000	0.23307	.	.	ENSG00000128313	ENST00000249044	T	0.05025	3.51	1.53	-2.12	0.07165	.	46.722300	0.01032	U	0.004147	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	P	0.41232	0.743	B	0.28991	0.097	T	0.26573	-1.0099	10	0.87932	D	0	.	2.715	0.05185	0.1728:0.0:0.3404:0.4868	.	26	Q9BWW9	APOL5_HUMAN	K	26	ENSP00000249044:E26K	ENSP00000249044:E26K	E	+	1	0	APOL5	34446581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.475000	0.06599	-0.542000	0.06249	-0.296000	0.09543	GAA	APOL5	-	NULL	ENSG00000128313		0.502	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1	98	0.00	0	G	NM_030642		36116635	36116635	+1	no_errors	ENST00000249044	ensembl	human	known	69_37n	missense	145	24.08	46	SNP	0.000	A
BRINP1	1620	genome.wustl.edu	37	9	121930047	121930047	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr9:121930047C>T	ENST00000265922.3	-	8	2062	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	534					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R534H(1)									GAAGTCCATGCGGTTCTTGTT	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											119.0	93.0	102.0					9																	121930047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1601G>A	9.37:g.121930047C>T	ENSP00000265922:p.Arg534His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R534H	ENST00000265922.3	37	c.1601	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625159	0.87560	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15256	2.44	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.02391	-1.1166	10	0.72032	D	0.01	-22.2179	19.91	0.97023	0.0:1.0:0.0:0.0	.	534	O60477	DBC1_HUMAN	H	534	ENSP00000265922:R534H	ENSP00000265922:R534H	R	-	2	0	DBC1	120969868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.896000	0.63222	2.702000	0.92279	0.655000	0.94253	CGC	DBC1	-	NULL	ENSG00000078725		0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	111	0.00	0	C	NM_014618		121930047	121930047	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	missense	68	44.72	55	SNP	1.000	T
DNAI2	64446	genome.wustl.edu	37	17	72283239	72283239	+	Splice_Site	DEL	T	T	-			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr17:72283239delT	ENST00000311014.6	+	4	534		c.e4+2		DNAI2_ENST00000582036.1_Splice_Site|DNAI2_ENST00000446837.2_Splice_Site|DNAI2_ENST00000579490.1_Splice_Site|DNAI2_ENST00000307504.5_Intron			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2						cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTGTTCAGGTAGCGCCATAG	0.552									Kartagener syndrome																													dbGAP											0													129.0	89.0	103.0					17																	72283239		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.467+2T>-	17.37:g.72283239delT		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Splice_Site	DEL	-	e3+2	ENST00000311014.6	37	c.467+2	CCDS11697.1	17																																																																																			DNAI2	-	-	ENSG00000171595		0.552	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	60	0.00	0	T	NM_023036	Intron	72283239	72283239	+1	no_errors	ENST00000311014	ensembl	human	known	69_37n	splice_site_del	121	75.61	465	DEL	1.000	-
PDXDC2P	283970	genome.wustl.edu	37	16	70010517	70010519	+	RNA	DEL	TGT	TGT	-	rs372253115		TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr16:70010517_70010519delTGT	ENST00000531894.1	-	0	3864_3866				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.Q253delQ(2)									AGTTATAGAATGTTGTTGAGTTG	0.507																																						dbGAP											2	Deletion - In frame(2)	breast(2)																																								-	-	-			0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010520_70010522delTGT		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z5	In_Frame_Del	DEL	pfam_NPIP	p.Q253in_frame_del	ENST00000531894.1	37	c.761_759		16																																																																																			RP11-419C5.2	-	pfam_NPIP	ENSG00000226232		0.507	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226232	Clone_based_vega_gene	processed_transcript	OTTHUMT00000395258.1	11	0.00	0	TGT			70010517	70010519	-1	no_errors	ENST00000532298	ensembl	human	novel	69_37n	in_frame_del	8	38.46	5	DEL	0.600:0.610:0.620	-
GJD3	125111	genome.wustl.edu	37	17	38519722	38519722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr17:38519722C>A	ENST00000578689.1	-	1	345	c.346G>T	c.(346-348)Gga>Tga	p.G116*	GJD3_ENST00000337376.4_Nonsense_Mutation_p.G116*|CTD-2267D19.3_ENST00000578774.1_Silent_p.S178S	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	116					cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			TCGGGCAGTCCGGGGGCGCAC	0.781																																						dbGAP											0													5.0	6.0	6.0					17																	38519722		1406	3266	4672	-	-	-	SO:0001587	stop_gained	0			AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"""Ion channels / Gap junction proteins (connexins)"""	19147	protein-coding gene	gene with protein product	"""connexin 31.9"""	607425	"""gap junction protein, chi 1, 31.9kDa"""	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144		ENST00000578689.1:c.346G>T	17.37:g.38519722C>A	ENSP00000463752:p.Gly116*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUW6	Nonsense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.G116*	ENST00000578689.1	37	c.346	CCDS58547.1	17	.	.	.	.	.	.	.	.	.	.	C	7.648	0.682255	0.14907	.	.	ENSG00000183153	ENST00000337376	.	.	.	3.12	-1.67	0.08238	.	1.217550	0.06584	U	0.750806	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.9396	0.09321	0.1651:0.5086:0.0:0.3263	.	.	.	.	X	116	.	ENSP00000336832:G116X	G	-	1	0	GJD3	35773248	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.939000	0.03933	-0.225000	0.09913	-0.680000	0.03767	GGA	GJD3	-	NULL	ENSG00000183153		0.781	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD3	HGNC	protein_coding	OTTHUMT00000447449.1	11	0.00	0	C	NM_152219		38519722	38519722	-1	no_errors	ENST00000337376	ensembl	human	known	69_37n	nonsense	3	62.50	5	SNP	0.000	A
GPR1	2825	genome.wustl.edu	37	2	207041836	207041836	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr2:207041836A>C	ENST00000407325.2	-	3	498	c.136T>G	c.(136-138)Tgt>Ggt	p.C46G	GPR1_ENST00000437420.1_Missense_Mutation_p.C46G	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	46					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.C46G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AAAGCCAAACAATATAACACC	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											136.0	145.0	142.0					2																	207041836		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.136T>G	2.37:g.207041836A>C	ENSP00000384345:p.Cys46Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_ATII_rcpt	p.C46G	ENST00000407325.2	37	c.136	CCDS2368.1	2	.	.	.	.	.	.	.	.	.	.	A	0.084	-1.178601	0.01633	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845;ENST00000439932;ENST00000411719	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.84	3.3	0.37823	.	0.290799	0.35320	N	0.003286	T	0.23926	0.0579	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13124	-1.0521	10	0.28530	T	0.3	.	7.6702	0.28455	0.7252:0.1185:0.0:0.1563	.	46	P46091	GPR1_HUMAN	G	46	ENSP00000384345:C46G;ENSP00000397535:C46G;ENSP00000414836:C46G;ENSP00000391146:C46G;ENSP00000414524:C46G;ENSP00000409577:C46G;ENSP00000404861:C46G	ENSP00000384345:C46G	C	-	1	0	GPR1	206750081	0.977000	0.34250	0.010000	0.14722	0.060000	0.15804	1.878000	0.39608	1.091000	0.41335	0.528000	0.53228	TGT	GPR1	-	prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt	ENSG00000183671		0.453	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR1	HGNC	protein_coding	OTTHUMT00000256394.2	119	0.00	0	A	NM_001098199		207041836	207041836	-1	no_errors	ENST00000407325	ensembl	human	known	69_37n	missense	177	20.63	46	SNP	0.011	C
GUCY2D	3000	genome.wustl.edu	37	17	7910008	7910008	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr17:7910008G>A	ENST00000254854.4	+	4	1504	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	452					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.D452N(1)		skin(1)	1		Prostate(122;0.157)				GTGCTGGTTCGATCCAAACAA	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											19.0	18.0	19.0					17																	7910008		2202	4300	6502	-	-	-	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1354G>A	17.37:g.7910008G>A	ENSP00000254854:p.Asp452Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D452N	ENST00000254854.4	37	c.1354	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169919	0.57584	.	.	ENSG00000132518	ENST00000254854	D	0.82893	-1.66	5.15	4.11	0.48088	.	0.150172	0.30714	N	0.009032	T	0.79787	0.4506	M	0.78637	2.42	0.31176	N	0.702647	B	0.30021	0.265	B	0.18871	0.023	T	0.76468	-0.2948	10	0.16896	T	0.51	.	14.0281	0.64597	0.0:0.1524:0.8476:0.0	.	452	Q02846	GUC2D_HUMAN	N	452	ENSP00000254854:D452N	ENSP00000254854:D452N	D	+	1	0	GUCY2D	7850733	0.727000	0.28069	0.998000	0.56505	0.752000	0.42762	2.183000	0.42565	2.401000	0.81631	0.561000	0.74099	GAT	GUCY2D	-	NULL	ENSG00000132518		0.622	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	31	0.00	0	G			7910008	7910008	+1	no_errors	ENST00000254854	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.981	A
HECTD4	283450	genome.wustl.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.D4198fs	ENST00000430131.2	37	c.12591_12590		12																																																																																			HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000173064		0.629	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		33	0.00	0	-	NM_173813		112600859	112600860	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	0.555:1.000	G
IL1RN	3557	genome.wustl.edu	37	2	113888708	113888708	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr2:113888708G>T	ENST00000409930.3	+	3	356	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C	IL1RN_ENST00000259206.5_Missense_Mutation_p.G101C|IL1RN_ENST00000361779.3_Missense_Mutation_p.G64C|IL1RN_ENST00000409052.1_Missense_Mutation_p.G64C|IL1RN_ENST00000354115.2_Missense_Mutation_p.G80C	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	98					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)	p.G64C(1)|p.G101C(1)		breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	TGTCAAGTCTGGTGATGAGAC	0.453									Lichen Sclerosis et Atrophicus, Familial Clustering of																													dbGAP											2	Substitution - Missense(2)	breast(2)											127.0	112.0	117.0					2																	113888708		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Lichen Sclerosis, Familial	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.292G>T	2.37:g.113888708G>T	ENSP00000387173:p.Gly98Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_IL_rcpt_IL1RA,prints_Interleukin_1	p.G101C	ENST00000409930.3	37	c.301	CCDS46396.1	2	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659894	0.67586	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	5.19	5.19	0.71726	.	0.103686	0.64402	D	0.000003	T	0.46889	0.1416	M	0.92219	3.285	0.43598	D	0.995959	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.995	T	0.58612	-0.7606	10	0.87932	D	0	-11.4493	14.2156	0.65790	0.0:0.0:1.0:0.0	.	98;80;101	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	C	64;64;101;80;98	ENSP00000387210:G64C;ENSP00000354816:G64C;ENSP00000259206:G101C;ENSP00000329072:G80C;ENSP00000387173:G98C	ENSP00000259206:G101C	G	+	1	0	IL1RN	113605179	1.000000	0.71417	0.973000	0.42090	0.707000	0.40811	4.751000	0.62169	2.425000	0.82216	0.655000	0.94253	GGT	IL1RN	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_IL_rcpt_IL1RA,prints_Interleukin_1	ENSG00000136689		0.453	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL1RN	HGNC	protein_coding	OTTHUMT00000330802.1	82	0.00	0	G	NM_173841		113888708	113888708	+1	no_errors	ENST00000259206	ensembl	human	known	69_37n	missense	106	32.91	52	SNP	0.976	T
KIF2A	3796	genome.wustl.edu	37	5	61668293	61668293	+	Intron	SNP	G	G	C			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr5:61668293G>C	ENST00000401507.3	+	17	1957				KIF2A_ENST00000381103.2_Intron|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.D559H|KIF2A_ENST00000506857.1_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D559H(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TAGTCCATCAGACATTCCCTT	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											97.0	91.0	93.0					5																	61668293		1857	4110	5967	-	-	-	SO:0001627	intron_variant	0			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1647-1221G>C	5.37:g.61668293G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D559H	ENST00000401507.3	37	c.1675	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407152	0.83230	.	.	ENSG00000068796	ENST00000407818	T	0.74421	-0.84	4.88	4.88	0.63580	.	.	.	.	.	T	0.74703	0.3751	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79626	-0.1725	9	0.48119	T	0.1	.	18.2243	0.89911	0.0:0.0:1.0:0.0	.	559	O00139-4	.	H	559	ENSP00000385000:D559H	ENSP00000385000:D559H	D	+	1	0	KIF2A	61704050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.540000	0.85666	0.591000	0.81541	GAC	KIF2A	-	smart_Kinesin_motor_dom	ENSG00000068796		0.413	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	217	0.00	0	G	NM_004520		61668293	61668293	+1	no_errors	ENST00000407818	ensembl	human	known	69_37n	missense	123	46.75	108	SNP	1.000	C
LCT	3938	genome.wustl.edu	37	2	136564944	136564945	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr2:136564944_136564945insA	ENST00000264162.2	-	9	3936_3937	c.3926_3927insT	c.(3925-3927)gacfs	p.D1309fs	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1309	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ACCCTCGAAGGTCTATACCATC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3926_3927insT	2.37:g.136564944_136564945insA	ENSP00000264162:p.Asp1309fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG58	Frame_Shift_Ins	INS	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L1310fs	ENST00000264162.2	37	c.3927_3926	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	ENSG00000115850		0.525	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	51	0.00	0	-	NM_002299		136564944	136564945	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	frame_shift_ins	72	29.41	30	INS	0.983:0.976	A
LRRC43	254050	genome.wustl.edu	37	12	122685345	122685346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr12:122685345_122685346insC	ENST00000339777.4	+	10	1701_1702	c.1673_1674insC	c.(1672-1677)gaccccfs	p.DP558fs	B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000425921.1_Frame_Shift_Ins_p.DP373fs|LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATCC	0.668																																						dbGAP											0									,	7,3593		0,7,1793					,	5.3	1.0			34	8,7812		0,8,3902	no	frameshift,frameshift	LRRC43	NM_152759.4,NM_001098519.1	,	0,15,5695	A1A1,A1R,RR		0.1023,0.1944,0.1313	,	,		15,11405				-	-	-	SO:0001589	frameshift_variant	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1680dupC	12.37:g.122685352_122685352dupC	ENSP00000344233:p.Asp558fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVT9	Frame_Shift_Ins	INS	NULL	p.I561fs	ENST00000339777.4	37	c.1673_1674	CCDS45001.1	12																																																																																			LRRC43	-	NULL	ENSG00000158113		0.668	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	30	0.00	0	-	NM_152759		122685345	122685346	+1	no_errors	ENST00000339777	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	1.000:0.997	C
LTF	4057	genome.wustl.edu	37	3	46492156	46492156	+	Silent	SNP	C	C	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr3:46492156C>T	ENST00000231751.4	-	7	1006	c.711G>A	c.(709-711)ctG>ctA	p.L237L	LTF_ENST00000426532.2_Silent_p.L193L|LTF_ENST00000417439.1_Silent_p.L237L	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	237	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.L237L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CCTCGTCTGACAGGTCCTCTG	0.537																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											116.0	106.0	110.0					3																	46492156		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.711G>A	3.37:g.46492156C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.L237	ENST00000231751.4	37	c.711	CCDS33747.1	3																																																																																			LTF	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin	ENSG00000012223		0.537	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	85	0.00	0	C	NM_002343		46492156	46492156	-1	no_errors	ENST00000231751	ensembl	human	known	69_37n	silent	61	14.08	10	SNP	0.989	T
MUC4	4585	genome.wustl.edu	37	3	195497194	195497194	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr3:195497194C>T	ENST00000346145.4	-	5	622	c.583G>A	c.(583-585)Gag>Aag	p.E195K	MUC4_ENST00000463781.3_Missense_Mutation_p.E4431K|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000349607.4_Missense_Mutation_p.E144K	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1188					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)		ATCCAAGACTCGGCCTGCTGG	0.552																																						dbGAP											0													86.0	78.0	81.0					3																	195497194		2203	4300	6503	-	-	-	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	ENST00000346145.4:c.583G>A	3.37:g.195497194C>T	ENSP00000304207:p.Glu195Lys	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.E4431K	ENST00000346145.4	37	c.13291	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	12.66	2.004422	0.35320	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000392409	T;T;T	0.38560	1.13;1.49;1.43	5.08	4.2	0.49525	Nidogen, extracellular domain (2);	0.342882	0.24606	N	0.037082	T	0.62134	0.2403	M	0.83312	2.635	0.80722	D	1	P;D;D;D	0.89917	0.797;1.0;1.0;1.0	B;D;D;D	0.74674	0.153;0.972;0.977;0.984	T	0.61382	-0.7074	10	0.30854	T	0.27	-9.1079	9.4214	0.38553	0.0:0.9018:0.0:0.0982	.	4303;1188;144;195	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	K	144;195;4431;1157	ENSP00000338109:E144K;ENSP00000304207:E195K;ENSP00000417498:E4431K	ENSP00000304207:E195K	E	-	1	0	MUC4	196982828	0.986000	0.35501	0.982000	0.44146	0.111000	0.19643	2.412000	0.44609	1.153000	0.42468	0.633000	0.83428	GAG	MUC4	-	smart_Nidogen_extracell_dom	ENSG00000145113		0.552	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	36	0.00	0	C	NM_018406		195497194	195497194	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	78	23.30	24	SNP	0.989	T
MUC4	4585	genome.wustl.edu	37	3	195510725	195510725	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr3:195510725G>A	ENST00000463781.3	-	2	8185	c.7726C>T	c.(7726-7728)Cct>Tct	p.P2576S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2576S|MUC4_ENST00000349607.4_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)		ACAGGAAGAGGGGTGGCGTGA	0.592																																						dbGAP											0													30.0	25.0	27.0					3																	195510725		683	1583	2266	-	-	-	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.7726C>T	3.37:g.195510725G>A	ENSP00000417498:p.Pro2576Ser	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.P2576S	ENST00000463781.3	37	c.7726	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	7.199	0.593028	0.13875	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.27104	1.7;1.69	1.19	-0.323	0.12709	.	.	.	.	.	T	0.10809	0.0264	N	0.19112	0.55	0.09310	N	1	P	0.36222	0.544	B	0.25884	0.064	T	0.21930	-1.0231	8	.	.	.	.	4.7061	0.12849	0.0:0.0:0.4363:0.5637	rs4927785	2576	E7ESK3	.	S	2576	ENSP00000417498:P2576S;ENSP00000420243:P2576S	.	P	-	1	0	MUC4	196995120	0.007000	0.16637	0.010000	0.14722	0.093000	0.18481	0.708000	0.25719	0.661000	0.30985	0.264000	0.19307	CCT	MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	29	0.00	0	G	NM_018406		195510725	195510725	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	0.025	A
MYO5B	4645	genome.wustl.edu	37	18	47352891	47352891	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr18:47352891A>C	ENST00000285039.7	-	40	5796	c.5497T>G	c.(5497-5499)Tca>Gca	p.S1833A	MYO5B_ENST00000592688.1_Missense_Mutation_p.S403A|MYO5B_ENST00000324581.6_Missense_Mutation_p.S948A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.S156A|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1833					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.S1833A(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGTGGATTGAGTCCATGGTT	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											109.0	100.0	103.0					18																	47352891		1919	4147	6066	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5497T>G	18.37:g.47352891A>C	ENSP00000285039:p.Ser1833Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1833A	ENST00000285039.7	37	c.5497	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744961	0.49151	.	.	ENSG00000167306	ENST00000285039;ENST00000356732;ENST00000324581	D;T	0.85955	-2.05;2.58	5.37	5.37	0.77165	.	0.082227	0.51477	D	0.000093	T	0.69043	0.3067	N	0.08118	0	0.35255	D	0.779013	B;B	0.31318	0.107;0.319	B;B	0.26770	0.044;0.073	T	0.75028	-0.3462	10	0.40728	T	0.16	.	10.4511	0.44522	0.8547:0.0:0.0:0.1453	.	1833;948	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1833;705;948	ENSP00000285039:S1833A;ENSP00000315531:S948A	ENSP00000285039:S1833A	S	-	1	0	MYO5B	45606889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.783000	0.55409	2.260000	0.74910	0.528000	0.53228	TCA	MYO5B	-	NULL	ENSG00000167306		0.423	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	234	0.00	0	A			47352891	47352891	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	203	27.76	78	SNP	1.000	C
NLK	51701	genome.wustl.edu	37	17	26495615	26495615	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr17:26495615G>A	ENST00000407008.3	+	6	1697	c.979G>A	c.(979-981)Gtg>Atg	p.V327M		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.V315M(1)|p.V327M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCTGGTCTGTGGGATGTAT	0.428																																						dbGAP											2	Substitution - Missense(2)	breast(2)											152.0	147.0	149.0					17																	26495615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.979G>A	17.37:g.26495615G>A	ENSP00000384625:p.Val327Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V327M	ENST00000407008.3	37	c.979	CCDS11224.2	17	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020086	0.93462	.	.	ENSG00000087095	ENST00000407008	T	0.66815	-0.23	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78999	-0.1982	10	0.87932	D	0	-1.2732	19.6516	0.95815	0.0:0.0:1.0:0.0	.	327	Q9UBE8	NLK_HUMAN	M	327	ENSP00000384625:V327M	ENSP00000384625:V327M	V	+	1	0	NLK	23519742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GTG	NLK	-	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	ENSG00000087095		0.428	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	HGNC	protein_coding	OTTHUMT00000255607.3	117	0.00	0	G	NM_016231		26495615	26495615	+1	no_errors	ENST00000407008	ensembl	human	known	69_37n	missense	78	31.58	36	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	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>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	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	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	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	75	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	115	21.23	31	SNP	1.000	G
PRAMEF13	400736	genome.wustl.edu	37	1	13448451	13448451	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr1:13448451C>G	ENST00000376132.3	-	4	1126	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	342					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A342P(1)		breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTAGCAGAGCTCCGAGGGGT	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											7.0	7.0	7.0					1																	13448451		1877	4036	5913	-	-	-	SO:0001583	missense	0					1p36.21	2013-01-17			ENSG00000204495			"""-"""	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1024G>C	1.37:g.13448451C>G	ENSP00000365302:p.Ala342Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.A342P	ENST00000376132.3	37	c.1024	CCDS41257.1	1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544360	0.27563	.	.	ENSG00000204495	ENST00000376132	T	0.07114	3.22	1.2	0.196	0.15159	.	1.197740	0.06012	N	0.649667	T	0.13500	0.0327	L	0.61218	1.895	0.09310	N	1	P;P	0.43542	0.81;0.693	P;B	0.47827	0.558;0.267	T	0.25467	-1.0131	10	0.36615	T	0.2	.	3.6856	0.08327	0.0:0.7273:0.0:0.2727	.	342;342	Q5VWM6;A6NFR9	PRA13_HUMAN;.	P	342	ENSP00000365302:A342P	ENSP00000365302:A342P	A	-	1	0	PRAMEF13	13321038	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.079000	0.03410	0.056000	0.16144	0.298000	0.19748	GCT	PRAMEF13	-	NULL	ENSG00000204495		0.537	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	PRAMEF13	HGNC	protein_coding	OTTHUMT00000022040.1	150	0.00	0	C	XM_375688		13448451	13448451	-1	no_errors	ENST00000376132	ensembl	human	known	69_37n	missense	136	22.73	40	SNP	0.001	G
PRICKLE1	144165	genome.wustl.edu	37	12	42853698	42853698	+	Silent	SNP	A	A	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr12:42853698A>T	ENST00000455697.1	-	8	2694	c.2409T>A	c.(2407-2409)tcT>tcA	p.S803S	PRICKLE1_ENST00000548696.1_Silent_p.S803S|PRICKLE1_ENST00000445766.2_Silent_p.S803S|PRICKLE1_ENST00000345127.3_Silent_p.S803S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.S803S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	803					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S803S(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGGGAAGTGCAGATGGTGGAC	0.443																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											164.0	164.0	164.0					12																	42853698		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2409T>A	12.37:g.42853698A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C83|Q71QF8|Q96N00	Silent	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S803	ENST00000455697.1	37	c.2409	CCDS8742.1	12																																																																																			PRICKLE1	-	NULL	ENSG00000139174		0.443	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	385	0.00	0	A			42853698	42853698	-1	no_errors	ENST00000345127	ensembl	human	known	69_37n	silent	372	33.45	187	SNP	0.043	T
RIC8A	60626	genome.wustl.edu	37	11	212869	212869	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr11:212869A>G	ENST00000526104.1	+	8	2587	c.1243A>G	c.(1243-1245)Aat>Gat	p.N415D	RIC8A_ENST00000325207.5_Missense_Mutation_p.N421D|RIC8A_ENST00000527696.1_Missense_Mutation_p.N409D			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	415					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCTATGGGAATGCTGCTGG	0.622																																						dbGAP											0													68.0	71.0	70.0					11																	212869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1243A>G	11.37:g.212869A>G	ENSP00000432008:p.Asn415Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.N421D	ENST00000526104.1	37	c.1261		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.72|19.72	3.880958|3.880958	0.72294|0.72294	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000524854|ENST00000526104;ENST00000325207;ENST00000527696	.|.	.|.	.|.	3.96|3.96	3.96|3.96	0.45880|0.45880	.|Synembryn (1);	.|0.097082	.|0.64402	.|D	.|0.000002	T|T	0.79240|0.79240	0.4412|0.4412	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.996;0.995	.|D;D;P	.|0.67231	.|0.95;0.935;0.893	T|T	0.80379|0.80379	-0.1407|-0.1407	5|9	.|0.33141	.|T	.|0.24	-15.0109|-15.0109	13.0261|13.0261	0.58817|0.58817	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|409;415;421	.|Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.|.;RIC8A_HUMAN;.	G|D	22|415;421;409	.|.	.|ENSP00000325941:N421D	E|N	+|+	2|1	0|0	RIC8A|RIC8A	202869|202869	1.000000|1.000000	0.71417|0.71417	0.652000|0.652000	0.29579|0.29579	0.530000|0.530000	0.34684|0.34684	7.197000|7.197000	0.77814|0.77814	2.043000|2.043000	0.60533|0.60533	0.459000|0.459000	0.35465|0.35465	GAA|AAT	RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8,prints_Synembryn	ENSG00000177963		0.622	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	40	0.00	0	A	NM_021932		212869	212869	+1	no_errors	ENST00000325207	ensembl	human	known	69_37n	missense	14	48.15	13	SNP	1.000	G
ROR1	4919	genome.wustl.edu	37	1	64643348	64643348	+	Missense_Mutation	SNP	G	G	A	rs139362871		TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr1:64643348G>A	ENST00000371079.1	+	9	1999	c.1624G>A	c.(1624-1626)Gtc>Atc	p.V542I	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	542	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.V542I(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCTAGGTGCCGTCACTCAGGA	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19104	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	149.0	152.0					1																	64643348		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1624G>A	1.37:g.64643348G>A	ENSP00000360120:p.Val542Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V542I	ENST00000371079.1	37	c.1624	CCDS626.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.82	1.753741	0.31046	.	.	ENSG00000185483	ENST00000371079;ENST00000544776	D	0.83250	-1.7	5.88	5.88	0.94601	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38778	N	0.001568	T	0.80048	0.4552	L	0.46157	1.445	0.80722	D	1	B	0.31910	0.346	B	0.43783	0.431	T	0.75947	-0.3138	10	0.25106	T	0.35	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	542	Q01973	ROR1_HUMAN	I	542;545	ENSP00000360120:V542I	ENSP00000360120:V542I	V	+	1	0	ROR1	64415936	1.000000	0.71417	0.965000	0.40720	0.209000	0.24338	7.853000	0.86934	2.780000	0.95670	0.655000	0.94253	GTC	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000185483		0.478	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	108	0.00	0	G	NM_005012		64643348	64643348	+1	no_errors	ENST00000371079	ensembl	human	known	69_37n	missense	99	34.44	52	SNP	1.000	A
RTTN	25914	genome.wustl.edu	37	18	67863738	67863738	+	Splice_Site	SNP	G	G	A	rs192562671		TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr18:67863738G>A	ENST00000255674.6	-	7	1126	c.840C>T	c.(838-840)caC>caT	p.H280H	RTTN_ENST00000454359.1_Splice_Site_p.H280H|RTTN_ENST00000437017.1_Splice_Site_p.H280H	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	280					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.H280H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATAAATACCGTGTTTATTGG	0.398																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											73.0	71.0	72.0					18																	67863738		1865	4095	5960	-	-	-	SO:0001630	splice_region_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.841+1C>T	18.37:g.67863738G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.H280	ENST00000255674.6	37	c.840	CCDS42443.1	18																																																																																			RTTN	-	superfamily_ARM-type_fold	ENSG00000176225		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	127	0.00	0	G	NM_173630	Silent	67863738	67863738	-1	no_errors	ENST00000255674	ensembl	human	known	69_37n	silent	138	24.18	44	SNP	1.000	A
SKIV2L	6499	genome.wustl.edu	37	6	31937382	31937383	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr6:31937382_31937383insG	ENST00000375394.2	+	28	3744_3745	c.3631_3632insG	c.(3631-3633)cggfs	p.R1211fs	SKIV2L_ENST00000544581.1_Frame_Shift_Ins_p.R1018fs|STK19_ENST00000375333.2_5'Flank|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000478221.1_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1211					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCGCTCACTGCGGGGGGCAGCC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3637dupG	6.37:g.31937388_31937388dupG	ENSP00000364543:p.Arg1211fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15005|Q12902|Q15476|Q5ST66	Frame_Shift_Ins	INS	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1213fs	ENST00000375394.2	37	c.3631_3632	CCDS4731.1	6																																																																																			SKIV2L	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000204351		0.653	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	19	0.00	0	-			31937382	31937383	+1	no_errors	ENST00000375394	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	1.000:1.000	G
TBC1D2B	23102	genome.wustl.edu	37	15	78316850	78316850	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr15:78316850C>T	ENST00000300584.3	-	6	1117	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.R373Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	373							Rab GTPase activator activity (GO:0005097)	p.R373Q(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTGGGATGACCGGACTGTCTG	0.517																																						dbGAP											2	Substitution - Missense(2)	breast(2)											54.0	58.0	56.0					15																	78316850		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1118G>A	15.37:g.78316850C>T	ENSP00000300584:p.Arg373Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.R373Q	ENST00000300584.3	37	c.1118	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.670759|5.670759	0.96754|0.96754	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.09255	.|3.0;3.01	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32102|0.32102	0.0818|0.0818	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.71870	.|0.975;0.944	T|T	0.00891|0.00891	-1.1525|-1.1525	5|10	.|0.66056	.|D	.|0.02	.|.	18.4892|18.4892	0.90841|0.90841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373;373	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	S|Q	255|373;373;261	.|ENSP00000387165:R373Q;ENSP00000300584:R373Q	.|ENSP00000300584:R373Q	G|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76103905|76103905	1.000000|1.000000	0.71417|0.71417	0.462000|0.462000	0.27118|0.27118	0.997000|0.997000	0.91878|0.91878	5.597000|5.597000	0.67577|0.67577	2.601000|2.601000	0.87937|0.87937	0.491000|0.491000	0.48974|0.48974	GGT|CGG	TBC1D2B	-	NULL	ENSG00000167202		0.517	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	91	0.00	0	C	NM_015079		78316850	78316850	-1	no_errors	ENST00000300584	ensembl	human	known	69_37n	missense	110	12.70	16	SNP	0.992	T
TP53	7157	genome.wustl.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr17:7577018C>T	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site	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						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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGCTTGCTTACCTCGCTTAGT	0.562		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"""	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	GRCh37	CD920913	TP53	D							127.0	112.0	117.0					17																	7577018		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.919+1G>A	17.37:g.7577018C>T		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	Splice_Site	SNP	-	e7+1	ENST00000269305.4	37	c.919+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156918	0.21454	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.	TP53	-	-	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	347	0.00	0	C	NM_000546	Intron	7577018	7577018	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	170	45.69	143	SNP	0.976	T
VPS39	23339	genome.wustl.edu	37	15	42458983	42458983	+	Silent	SNP	C	C	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr15:42458983C>T	ENST00000348544.4	-	15	1538	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	VPS39_ENST00000318006.5_Silent_p.G502G			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	513					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.G502G(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TCTCGTGGAGCCCCTTCTTCT	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											154.0	133.0	140.0					15																	42458983		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1539G>A	15.37:g.42458983C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.G513	ENST00000348544.4	37	c.1539	CCDS10083.1	15																																																																																			VPS39	-	pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat	ENSG00000166887		0.527	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	122	0.00	0	C	NM_015289		42458983	42458983	-1	no_errors	ENST00000348544	ensembl	human	known	69_37n	silent	112	33.14	56	SNP	1.000	T
ZNF3	7551	genome.wustl.edu	37	7	99673193	99673193	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr7:99673193G>C	ENST00000424697.1	-	4	422	c.116C>G	c.(115-117)gCg>gGg	p.A39G	ZNF3_ENST00000303915.6_Missense_Mutation_p.A39G|ZNF3_ENST00000299667.4_Missense_Mutation_p.A39G|ZNF3_ENST00000413658.2_Missense_Mutation_p.A39G	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	39					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.A39G(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GAGCGCAGCCGCCAACATCTC	0.502																																						dbGAP											2	Substitution - Missense(2)	breast(2)											69.0	76.0	74.0					7																	99673193		2029	4191	6220	-	-	-	SO:0001583	missense	0			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.116C>G	7.37:g.99673193G>C	ENSP00000415358:p.Ala39Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A39G	ENST00000424697.1	37	c.116	CCDS43619.1	7	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807820	0.50421	.	.	ENSG00000166526	ENST00000413658;ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298;ENST00000415068;ENST00000292393	T;T;T;T;T;T;T;T;T	0.08546	4.5;3.08;3.08;3.08;4.76;4.91;4.91;4.64;4.71	4.63	3.75	0.43078	.	0.183542	0.26796	N	0.022449	T	0.12646	0.0307	L	0.50333	1.59	0.25250	N	0.98969	P;D	0.53151	0.487;0.958	B;P	0.49683	0.116;0.619	T	0.05451	-1.0884	10	0.87932	D	0	-5.2474	8.5819	0.33634	0.104:0.0:0.896:0.0	.	39;39	P17036;P17036-2	ZNF3_HUMAN;.	G	39;39;39;39;3;39;39;3;39;3	ENSP00000399951:A39G;ENSP00000415358:A39G;ENSP00000306372:A39G;ENSP00000299667:A39G;ENSP00000416088:A3G;ENSP00000405970:A39G;ENSP00000388042:A39G;ENSP00000394113:A3G;ENSP00000416686:A39G	ENSP00000292393:A3G	A	-	2	0	ZNF3	99511129	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.672000	0.46850	1.188000	0.43014	0.650000	0.86243	GCG	ZNF3	-	NULL	ENSG00000166526		0.502	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	HGNC	protein_coding	OTTHUMT00000336247.3	341	0.00	0	G	NM_017715		99673193	99673193	-1	no_errors	ENST00000299667	ensembl	human	known	69_37n	missense	300	29.08	123	SNP	1.000	C
ZNF439	90594	genome.wustl.edu	37	19	11979022	11979022	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B6-A0IE-01A-11W-A050-09	TCGA-B6-A0IE-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4cb39f50-5031-4b08-baa3-1a366ada6514	513424ac-0f6a-498a-b610-34f825d7dc63	g.chr19:11979022A>T	ENST00000304030.2	+	3	1338	c.1138A>T	c.(1138-1140)Aaa>Taa	p.K380*	ZNF439_ENST00000455282.1_Nonsense_Mutation_p.K244*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K380*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CAGTGGAGAGAAACCGTATAA	0.408																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											58.0	57.0	57.0					19																	11979022		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1138A>T	19.37:g.11979022A>T	ENSP00000305077:p.Lys380*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYZ7|Q96SU1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K380*	ENST00000304030.2	37	c.1138	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	a	24.5	4.536994	0.85812	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	.	.	.	0.575	0.575	0.17374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7827	0.23654	1.0:0.0:0.0:0.0	.	.	.	.	X	244;380	.	ENSP00000305077:K380X	K	+	1	0	ZNF439	11840022	0.746000	0.28272	0.185000	0.23176	0.074000	0.17049	2.721000	0.47260	0.485000	0.27652	0.163000	0.16589	AAA	ZNF439	-	pfscan_Znf_C2H2	ENSG00000171291		0.408	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	125	0.00	0	A			11979022	11979022	+1	no_errors	ENST00000304030	ensembl	human	known	69_37n	nonsense	104	32.90	51	SNP	1.000	T
