#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
ASXL1	171023	genome.wustl.edu	37	20	31023102	31023102	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr20:31023102G>C	ENST00000375687.4	+	13	3011	c.2587G>C	c.(2587-2589)Gat>Cat	p.D863H	ASXL1_ENST00000306058.5_Missense_Mutation_p.D858H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	863					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGAGCATTTGATGACGAATT	0.463			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													203.0	205.0	204.0					20																	31023102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2587G>C	20.37:g.31023102G>C	ENSP00000364839:p.Asp863His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.D863H	ENST00000375687.4	37	c.2587	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244384	0.22796	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16196	2.36;2.36	4.84	1.87	0.25490	.	0.377447	0.25631	N	0.029356	T	0.14960	0.0361	L	0.34521	1.04	0.09310	N	1	P;P	0.44578	0.838;0.838	B;P	0.47206	0.443;0.541	T	0.06023	-1.0850	10	0.46703	T	0.11	-7.2526	6.2797	0.21001	0.3011:0.0:0.6989:0.0	.	858;863	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	H	863;863;863;784;858	ENSP00000364839:D863H;ENSP00000305119:D858H	ENSP00000305119:D858H	D	+	1	0	ASXL1	30486763	0.670000	0.27512	0.025000	0.17156	0.001000	0.01503	2.137000	0.42130	0.762000	0.33152	-0.142000	0.14014	GAT	ASXL1	-	NULL	ENSG00000171456		0.463	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	178	0.00	0	G	NM_015338		31023102	31023102	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	missense	486	12.57	70	SNP	0.035	C
ASXL1	171023	genome.wustl.edu	37	20	31023531	31023531	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr20:31023531G>A	ENST00000375687.4	+	13	3440	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E1001K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1006					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCTGACTTTGAAGGTCACCT	0.502			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													106.0	91.0	96.0					20																	31023531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3016G>A	20.37:g.31023531G>A	ENSP00000364839:p.Glu1006Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.E1006K	ENST00000375687.4	37	c.3016	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.395263	0.96009	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.25414	1.8;1.8	4.76	4.76	0.60689	.	0.408106	0.27677	N	0.018314	T	0.34948	0.0915	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.69078	0.997;0.986	P;P	0.57283	0.817;0.817	T	0.03166	-1.1065	10	0.45353	T	0.12	-9.8524	16.5141	0.84294	0.0:0.0:1.0:0.0	.	1001;1006	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	K	1006;1006;1006;927;1001	ENSP00000364839:E1006K;ENSP00000305119:E1001K	ENSP00000305119:E1001K	E	+	1	0	ASXL1	30487192	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.868000	0.87116	2.644000	0.89710	0.491000	0.48974	GAA	ASXL1	-	NULL	ENSG00000171456		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	92	0.00	0	G	NM_015338		31023531	31023531	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	missense	221	14.34	37	SNP	1.000	A
ASXL1	171023	genome.wustl.edu	37	20	31024108	31024108	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr20:31024108G>T	ENST00000375687.4	+	13	4017	c.3593G>T	c.(3592-3594)gGa>gTa	p.G1198V	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1193V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1198					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGGCTCCTGGAGCACCCCAA	0.512			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													62.0	64.0	64.0					20																	31024108		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3593G>T	20.37:g.31024108G>T	ENSP00000364839:p.Gly1198Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.G1198V	ENST00000375687.4	37	c.3593	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605211	0.66445	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14266	2.53;2.52	4.34	2.27	0.28462	.	0.791121	0.11642	N	0.543721	T	0.18173	0.0436	L	0.32530	0.975	0.09310	N	0.999992	P;D	0.55605	0.931;0.972	P;P	0.51415	0.577;0.669	T	0.16070	-1.0415	10	0.56958	D	0.05	-3.7893	12.7245	0.57162	0.0:0.5297:0.4703:0.0	.	1193;1198	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1198;1198;1198;1119;1193	ENSP00000364839:G1198V;ENSP00000305119:G1193V	ENSP00000305119:G1193V	G	+	2	0	ASXL1	30487769	0.000000	0.05858	0.146000	0.22360	0.535000	0.34838	0.297000	0.19101	0.702000	0.31825	0.561000	0.74099	GGA	ASXL1	-	NULL	ENSG00000171456		0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	92	0.00	0	G	NM_015338		31024108	31024108	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	missense	145	12.12	20	SNP	0.056	T
CC2D1B	200014	genome.wustl.edu	37	1	52824769	52824769	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr1:52824769C>T	ENST00000371586.2	-	11	1325	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R396H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	396						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCCCGCCTCGCGGTACTTGTT	0.632																																						dbGAP											0													34.0	33.0	33.0					1																	52824769		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1187G>A	1.37:g.52824769C>T	ENSP00000360642:p.Arg396His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R396H	ENST00000371586.2	37	c.1187	CCDS30714.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.268|5.268	0.234820|0.234820	0.09969|0.09969	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573	.|T;T	.|0.30448	.|1.53;1.53	4.69|4.69	2.59|2.59	0.31030|0.31030	.|Domain of unknown function DM14 (1);	.|0.589854	.|0.16839	.|N	.|0.197411	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.51422|0.51422	1.61|1.61	0.34109|0.34109	D|D	0.662757|0.662757	.|P;D	.|0.55385	.|0.796;0.971	.|B;B	.|0.42062	.|0.165;0.374	T|T	0.33471|0.33471	-0.9867|-0.9867	5|10	.|0.33141	.|T	.|0.24	-5.6766|-5.6766	4.7757|4.7757	0.13178|0.13178	0.0:0.5734:0.0:0.4266|0.0:0.5734:0.0:0.4266	.|.	.|182;396	.|Q5T0G1;Q5T0F9	.|.;C2D1B_HUMAN	T|H	183;316|396;396;310	.|ENSP00000360642:R396H;ENSP00000284376:R396H	.|ENSP00000284376:R396H	A|R	-|-	1|2	0|0	CC2D1B|CC2D1B	52597357|52597357	0.003000|0.003000	0.15002|0.15002	0.805000|0.805000	0.32314|0.32314	0.073000|0.073000	0.16967|0.16967	-0.029000|-0.029000	0.12329|0.12329	1.129000|1.129000	0.42072|0.42072	0.561000|0.561000	0.74099|0.74099	GCG|CGC	CC2D1B	-	smart_DM14	ENSG00000154222		0.632	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	28	0.00	0	C	NM_032449		52824769	52824769	-1	no_errors	ENST00000371586	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	0.248	T
CYP26B1	56603	genome.wustl.edu	37	2	72371201	72371201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr2:72371201C>A	ENST00000001146.2	-	2	549	c.346G>T	c.(346-348)Gag>Tag	p.E116*	CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	116					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGAGGCCACTCGGTGCTCACG	0.622																																						dbGAP											0													85.0	78.0	80.0					2																	72371201		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.346G>T	2.37:g.72371201C>A	ENSP00000001146:p.Glu116*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.E116*	ENST00000001146.2	37	c.346	CCDS1919.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.330685	0.98217	.	.	ENSG00000003137	ENST00000001146;ENST00000461519	.	.	.	4.57	3.67	0.42095	.	0.244954	0.40222	N	0.001142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.2731	12.584	0.56406	0.0:0.8313:0.1687:0.0	.	.	.	.	X	116;99	.	ENSP00000001146:E116X	E	-	1	0	CYP26B1	72224709	0.681000	0.27614	1.000000	0.80357	0.997000	0.91878	1.358000	0.34102	1.263000	0.44181	0.555000	0.69702	GAG	CYP26B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000003137		0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	HGNC	protein_coding	OTTHUMT00000251969.1	16	0.00	0	C	NM_019885		72371201	72371201	-1	no_errors	ENST00000001146	ensembl	human	known	69_37n	nonsense	7	50.00	7	SNP	1.000	A
ECM1	1893	genome.wustl.edu	37	1	150485271	150485271	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr1:150485271T>C	ENST00000369047.4	+	9	1500	c.1375T>C	c.(1375-1377)Tgc>Cgc	p.C459R	LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000369049.4_Missense_Mutation_p.C486R|ECM1_ENST00000346569.6_Missense_Mutation_p.C334R|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	459					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGAACAGGCCTGCTGTGCAGA	0.547																																					Melanoma(156;1696 2560 11093 19685)	dbGAP											0													175.0	169.0	171.0					1																	150485271		2203	4300	6503	-	-	-	SO:0001583	missense	0			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1375T>C	1.37:g.150485271T>C	ENSP00000358043:p.Cys459Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.C486R	ENST00000369047.4	37	c.1456	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937874	0.52972	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.81659	-1.52;-1.52;-1.52	4.8	4.8	0.61643	.	0.534999	0.18942	N	0.126904	D	0.83547	0.5278	L	0.60455	1.87	0.50632	D	0.999886	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.83275	0.932;0.931;0.996	D	0.85462	0.1167	10	0.87932	D	0	-13.7037	10.6538	0.45663	0.0:0.0:0.0:1.0	.	486;334;459	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	R	486;459;334	ENSP00000358045:C486R;ENSP00000358043:C459R;ENSP00000271630:C334R	ENSP00000271630:C334R	C	+	1	0	ECM1	148751895	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.515000	0.35845	1.998000	0.58463	0.379000	0.24179	TGC	ECM1	-	pfam_ECM1	ENSG00000143369		0.547	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	160	0.00	0	T	NM_004425		150485271	150485271	+1	no_errors	ENST00000369049	ensembl	human	known	69_37n	missense	269	23.14	81	SNP	1.000	C
GYS1	2997	genome.wustl.edu	37	19	49489210	49489210	+	Missense_Mutation	SNP	C	C	T	rs560070875		TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr19:49489210C>T	ENST00000323798.3	-	4	771	c.575G>A	c.(574-576)cGt>cAt	p.R192H	GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R128H|GYS1_ENST00000541188.1_Missense_Mutation_p.R112H|GYS1_ENST00000540532.1_Missense_Mutation_p.R112H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	192					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCGCCGGGCACGACACAGGCA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18063	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													74.0	62.0	66.0					19																	49489210		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.575G>A	19.37:g.49489210C>T	ENSP00000317904:p.Arg192His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.R192H	ENST00000323798.3	37	c.575	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242494	0.79912	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000540532	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	3.93	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.86178	2.8	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.992;1.0	T	0.82104	-0.0622	10	0.72032	D	0.01	-8.7773	9.9714	0.41757	0.0:0.8945:0.0:0.1055	.	112;128;192	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	H	192;128;112;112	ENSP00000317904:R192H;ENSP00000263276:R128H;ENSP00000437922:R112H;ENSP00000445197:R112H	ENSP00000263276:R128H	R	-	2	0	GYS1	54181022	1.000000	0.71417	0.873000	0.34254	0.931000	0.56810	7.033000	0.76504	0.952000	0.37798	0.455000	0.32223	CGT	GYS1	-	pfam_Glycogen_synth,pfam_Starch_synth_cat_dom	ENSG00000104812		0.602	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	30	0.00	0	C	NM_002103		49489210	49489210	-1	no_errors	ENST00000323798	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	0.994	T
IQGAP1	8826	genome.wustl.edu	37	15	91019954	91019954	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr15:91019954G>T	ENST00000268182.5	+	24	2968	c.2844G>T	c.(2842-2844)atG>atT	p.M948I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.M376I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	948					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTCTGATATGATGATGATAA	0.343																																						dbGAP											0													134.0	154.0	147.0					15																	91019954		2198	4298	6496	-	-	-	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2844G>T	15.37:g.91019954G>T	ENSP00000268182:p.Met948Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.M948I	ENST00000268182.5	37	c.2844	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859190	0.71834	.	.	ENSG00000140575	ENST00000268182	T	0.02158	4.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.65051	-0.6262	10	0.25106	T	0.35	-33.4387	18.8458	0.92205	0.0:0.0:1.0:0.0	.	948	P46940	IQGA1_HUMAN	I	948	ENSP00000268182:M948I	ENSP00000268182:M948I	M	+	3	0	IQGAP1	88820958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.248000	0.72418	2.696000	0.92011	0.655000	0.94253	ATG	IQGAP1	-	NULL	ENSG00000140575		0.343	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	282	0.00	0	G	NM_003870		91019954	91019954	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	missense	93	59.91	139	SNP	1.000	T
KANK4	163782	genome.wustl.edu	37	1	62740107	62740107	+	Silent	SNP	C	C	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr1:62740107C>T	ENST00000371153.4	-	3	1047	c.669G>A	c.(667-669)cgG>cgA	p.R223R	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	223	Pro-rich.					cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTCTGGAATCCGAGTTGATG	0.572																																						dbGAP											0													44.0	42.0	43.0					1																	62740107		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.669G>A	1.37:g.62740107C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R223	ENST00000371153.4	37	c.669	CCDS620.1	1																																																																																			KANK4	-	NULL	ENSG00000132854		0.572	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	37	0.00	0	C	NM_181712		62740107	62740107	-1	no_errors	ENST00000371153	ensembl	human	known	69_37n	silent	45	22.41	13	SNP	0.000	T
KANSL3	55683	genome.wustl.edu	37	2	97278595	97278595	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr2:97278595C>T	ENST00000431828.1	-	7	948	c.872G>A	c.(871-873)cGc>cAc	p.R291H	KANSL3_ENST00000440133.1_Missense_Mutation_p.R85H|KANSL3_ENST00000441706.2_Missense_Mutation_p.R204H|KANSL3_ENST00000599854.1_Missense_Mutation_p.R204H|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	291					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAAGCGGTGGCGGCGTGAAGT	0.557																																						dbGAP											0													30.0	37.0	34.0					2																	97278595		2054	4178	6232	-	-	-	SO:0001583	missense	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.872G>A	2.37:g.97278595C>T	ENSP00000396749:p.Arg291His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	NULL	p.R291H	ENST00000431828.1	37	c.872	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.241892	0.95272	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268;ENST00000448075	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.994	D;P;D;P	0.91635	0.999;0.736;0.998;0.736	T	0.71981	-0.4428	10	0.87932	D	0	.	14.2716	0.66155	0.0:0.8503:0.1497:0.0	.	85;291;204;179	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	H	204;179;291;204;85;85;204;85	ENSP00000396749:R291H;ENSP00000400678:R204H;ENSP00000406207:R85H;ENSP00000405988:R85H	ENSP00000346144:R204H	R	-	2	0	KIAA1310	96642322	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.355000	0.79434	1.563000	0.49615	0.655000	0.94253	CGC	KANSL3	-	NULL	ENSG00000114982		0.557	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	19	0.00	0	C	NM_017991		97278595	97278595	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	T
KIAA0895	23366	genome.wustl.edu	37	7	36366445	36366445	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr7:36366445C>T	ENST00000297063.6	-	7	1537	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	KIAA0895_ENST00000338533.5_Missense_Mutation_p.G483D|KIAA0895_ENST00000440378.1_Missense_Mutation_p.G493D|KIAA0895_ENST00000317020.6_Missense_Mutation_p.G445D|KIAA0895_ENST00000436884.1_Missense_Mutation_p.G393D|KIAA0895_ENST00000453212.1_Missense_Mutation_p.G251D	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	496										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATATATCGGCCATGGTCCTG	0.408																																						dbGAP											0													168.0	161.0	164.0					7																	36366445		1889	4101	5990	-	-	-	SO:0001583	missense	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1487G>A	7.37:g.36366445C>T	ENSP00000297063:p.Gly496Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.G496D	ENST00000297063.6	37	c.1487	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316203	0.10789	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.5	-1.68	0.08212	.	1.027450	0.07673	N	0.935832	T	0.12732	0.0309	N	0.02539	-0.55	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.004;0.004;0.003;0.001	T	0.32613	-0.9900	9	0.12103	T	0.63	-16.7755	7.2891	0.26356	0.0:0.3541:0.1671:0.4789	.	493;393;496;483;445	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	D	496;483;445;493;393;251	.	ENSP00000297063:G496D	G	-	2	0	KIAA0895	36332970	0.000000	0.05858	0.028000	0.17463	0.788000	0.44548	-1.337000	0.02657	0.013000	0.14918	0.655000	0.94253	GGC	KIAA0895	-	pfam_DUF1704	ENSG00000164542		0.408	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	151	0.00	0	C	NM_015314		36366445	36366445	-1	no_errors	ENST00000297063	ensembl	human	known	69_37n	missense	153	25.00	51	SNP	0.003	T
LPA	4018	genome.wustl.edu	37	6	161022000	161022000	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr6:161022000C>G	ENST00000316300.5	-	19	3120	c.3076G>C	c.(3076-3078)Gtc>Ctc	p.V1026L	LPA_ENST00000447678.1_Missense_Mutation_p.V1026L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3534	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.V1026I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCGGAGGGACGAAGGCAGTC	0.493																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											80.0	83.0	82.0					6																	161022000		2182	4299	6481	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3076G>C	6.37:g.161022000C>G	ENSP00000321334:p.Val1026Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.V1026L	ENST00000316300.5	37	c.3076	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	0.928	-0.713681	0.03206	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61980	0.06;0.06	1.94	-3.18	0.05186	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.12178	0.0296	N	0.11845	0.185	0.09310	N	1	P	0.35714	0.517	B	0.27608	0.081	T	0.17684	-1.0361	9	0.13108	T	0.6	.	6.3793	0.21525	0.0:0.3282:0.0:0.6718	.	3534	P08519	APOA_HUMAN	L	1026	ENSP00000321334:V1026L;ENSP00000395608:V1026L	ENSP00000321334:V1026L	V	-	1	0	LPA	160941990	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.439000	0.01016	-0.729000	0.04875	-2.545000	0.00179	GTC	LPA	-	superfamily_Kringle-like	ENSG00000198670		0.493	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	224	0.00	0	C	NM_005577		161022000	161022000	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	171	28.75	69	SNP	0.000	G
LRIG2	9860	genome.wustl.edu	37	1	113616247	113616248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr1:113616247_113616248insC	ENST00000361127.5	+	1	417_418	c.219_220insC	c.(220-222)cccfs	p.P74fs	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	74	LRRNT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGGGCTTGCTGCCCCCCGACAC	0.673											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.225dupC	1.37:g.113616253_113616253dupC	ENSP00000355396:p.Pro74fs	Somatic	1451	WXS	Illumina GAIIx	Phase_IV	Q9NSN2	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D75fs	ENST00000361127.5	37	c.219_220	CCDS30808.1	1																																																																																			LRIG2	-	NULL	ENSG00000198799		0.673	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	21	0.00	0	-	NM_014813		113616247	113616248	+1	no_errors	ENST00000361127	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	1.000:1.000	C
KMT2D	8085	genome.wustl.edu	37	12	49436351	49436351	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr12:49436351C>G	ENST00000301067.7	-	27	5859	c.5860G>C	c.(5860-5862)Gat>Cat	p.D1954H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1954					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AACCTAGAATCCAGGAACGGG	0.577																																						dbGAP											0													62.0	70.0	67.0					12																	49436351		2026	4172	6198	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5860G>C	12.37:g.49436351C>G	ENSP00000301067:p.Asp1954His	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D1954H	ENST00000301067.7	37	c.5860	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217687	0.39201	.	.	ENSG00000167548	ENST00000301067	D	0.82984	-1.67	5.36	5.36	0.76844	.	0.000000	0.38005	N	0.001842	D	0.89417	0.6709	L	0.57536	1.79	0.53005	D	0.999966	D	0.89917	1.0	D	0.87578	0.998	D	0.90269	0.4306	10	0.87932	D	0	.	16.0095	0.80391	0.0:1.0:0.0:0.0	.	1954	O14686	MLL2_HUMAN	H	1954	ENSP00000301067:D1954H	ENSP00000301067:D1954H	D	-	1	0	MLL2	47722618	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.759000	0.55227	2.514000	0.84764	0.561000	0.74099	GAT	MLL2	-	NULL	ENSG00000167548		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	57	0.00	0	C			49436351	49436351	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	80	24.53	26	SNP	1.000	G
MYH14	79784	genome.wustl.edu	37	19	50750310	50750310	+	Silent	SNP	C	C	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr19:50750310C>T	ENST00000596571.1	+	10	1236	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	MYH14_ENST00000425460.1_Silent_p.S420S|MYH14_ENST00000440075.2_Silent_p.S420S|MYH14_ENST00000262269.8_Silent_p.S420S|MYH14_ENST00000376970.2_Silent_p.S412S|MYH14_ENST00000601313.1_Silent_p.S420S|MYH14_ENST00000598205.1_Silent_p.S420S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	412	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGATTTCTCCCGAGCCTTGC	0.607																																						dbGAP											0													37.0	41.0	40.0					19																	50750310		2084	4237	6321	-	-	-	SO:0001819	synonymous_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1236C>T	19.37:g.50750310C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S420	ENST00000596571.1	37	c.1260	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000105357		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	13	0.00	0	C	NM_024729		50750310	50750310	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	silent	11	52.17	12	SNP	1.000	T
MYO5B	4645	genome.wustl.edu	37	18	47463624	47463624	+	Silent	SNP	A	A	G			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr18:47463624A>G	ENST00000285039.7	-	15	2195	c.1896T>C	c.(1894-1896)gtT>gtC	p.V632V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	632	Myosin motor.				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)			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)		CCTGGTGGCCAACGGTTTTCT	0.592																																						dbGAP											0													109.0	109.0	109.0					18																	47463624		1977	4156	6133	-	-	-	SO:0001819	synonymous_variant	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.1896T>C	18.37:g.47463624A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Silent	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.V632	ENST00000285039.7	37	c.1896	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000167306		0.592	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	191	0.00	0	A			47463624	47463624	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	silent	231	20.27	59	SNP	1.000	G
NBPF10	100132406	genome.wustl.edu	37	1	145319647	145319647	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr1:145319647T>C	ENST00000342960.5	+	22	2869	c.2834T>C	c.(2833-2835)gTa>gCa	p.V945A	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCTGGAGGTAGTAGAGCCT	0.493																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.2834T>C	1.37:g.145319647T>C	ENSP00000345684:p.Val945Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.V945A	ENST00000342960.5	37	c.2834	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	0	-2.684414	0.00101	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.06218	3.33	0.501	-1.0	0.10196	.	.	.	.	.	T	0.00608	0.0020	N	0.20357	0.565	0.09310	N	1	B;B	0.21071	0.0;0.051	B;B	0.17433	0.003;0.018	T	0.48091	-0.9065	8	0.02654	T	1	.	.	.	.	.	451;85	Q4VC10;Q8IX70	.;.	A	507;945	ENSP00000345684:V945A	ENSP00000345684:V945A	V	+	2	0	NBPF10	144031004	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.956000	0.00675	-1.683000	0.01444	-1.914000	0.00519	GTA	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.493	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		37	0.00	0	T	NM_001039703		145319647	145319647	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	0.000	C
NEDD4L	23327	genome.wustl.edu	37	18	56010162	56010162	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr18:56010162C>G	ENST00000400345.3	+	16	1685	c.1402C>G	c.(1402-1404)Cgg>Ggg	p.R468G	NEDD4L_ENST00000256832.7_Missense_Mutation_p.R327G|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R327G|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R460G|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R347G|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R327G|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R347G|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R404G|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R448G|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R440G|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R364G|NEDD4L_ENST00000589054.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	468					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACCCGTACGTCGGGCTGTGAA	0.493																																						dbGAP											0													64.0	69.0	68.0					18																	56010162		1979	4153	6132	-	-	-	SO:0001583	missense	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1402C>G	18.37:g.56010162C>G	ENSP00000383199:p.Arg468Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.R468G	ENST00000400345.3	37	c.1402	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566900	0.45694	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.35048	1.43;1.42;1.44;1.33;1.93;1.93;1.84;1.93;1.93;1.93	6.17	6.17	0.99709	.	3.429180	0.00877	N	0.002090	T	0.32585	0.0834	N	0.24115	0.695	0.80722	D	1	P;B;P;B;B;P	0.40144	0.551;0.429;0.704;0.429;0.145;0.489	B;B;B;B;B;B	0.35470	0.184;0.145;0.145;0.203;0.048;0.19	T	0.19418	-1.0306	10	0.48119	T	0.1	.	13.6865	0.62520	0.2506:0.7494:0.0:0.0	.	440;460;327;404;468;448	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	G	468;448;404;364;327;347;460;327;327;347	ENSP00000383199:R468G;ENSP00000372301:R448G;ENSP00000348847:R404G;ENSP00000256830:R364G;ENSP00000256832:R327G;ENSP00000411947:R347G;ENSP00000350569:R460G;ENSP00000393395:R327G;ENSP00000405440:R327G;ENSP00000389406:R347G	ENSP00000256830:R364G	R	+	1	2	NEDD4L	54161142	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	2.848000	0.48278	2.941000	0.99782	0.655000	0.94253	CGG	NEDD4L	-	NULL	ENSG00000049759		0.493	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	127	0.00	0	C			56010162	56010162	+1	no_errors	ENST00000400345	ensembl	human	known	69_37n	missense	123	18.54	28	SNP	0.997	G
NOTCH3	4854	genome.wustl.edu	37	19	15271757	15271758	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr19:15271757_15271758delTG	ENST00000263388.2	-	33	6756_6757	c.6681_6682delCA	c.(6679-6684)cacagcfs	p.HS2227fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2227					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGGGCTGCTGTGTGCCCCAG	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6681_6682delCA	19.37:g.15271761_15271762delTG	ENSP00000263388:p.His2227fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.H2227fs	ENST00000263388.2	37	c.6682_6681	CCDS12326.1	19																																																																																			NOTCH3	-	pfam_DUF3454_notch,pirsf_Notch	ENSG00000074181		0.703	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	14	0.00	0	TG	NM_000435		15271757	15271758	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	frame_shift_del	11	26.67	4	DEL	0.005:0.002	-
NOTCH4	4855	genome.wustl.edu	37	6	32180644	32180644	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr6:32180644G>A	ENST00000375023.3	-	16	2621	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	NOTCH4_ENST00000465528.1_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	828	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGGCAGCGGGGACCCTGAGG	0.617																																						dbGAP											0													9.0	7.0	8.0					6																	32180644		1468	2650	4118	-	-	-	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2483C>T	6.37:g.32180644G>A	ENSP00000364163:p.Pro828Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.P828L	ENST00000375023.3	37	c.2483	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984731	0.35036	.	.	ENSG00000204301	ENST00000375023	D	0.92911	-3.13	4.33	3.45	0.39498	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.345695	0.21158	N	0.079208	T	0.67534	0.2903	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.67300	-0.5705	10	0.40728	T	0.16	.	4.8693	0.13624	0.1086:0.0:0.6781:0.2133	.	828	Q99466	NOTC4_HUMAN	L	828	ENSP00000364163:P828L	ENSP00000364163:P828L	P	-	2	0	NOTCH4	32288622	0.724000	0.28038	1.000000	0.80357	0.983000	0.72400	0.468000	0.22051	2.407000	0.81776	0.561000	0.74099	CCC	NOTCH4	-	pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom	ENSG00000204301		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	22	0.00	0	G			32180644	32180644	-1	no_errors	ENST00000375023	ensembl	human	known	69_37n	missense	22	46.34	19	SNP	0.936	A
PSMA7	5688	genome.wustl.edu	37	20	60714888	60714888	+	Silent	SNP	C	C	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr20:60714888C>T	ENST00000370873.4	-	3	423	c.297G>A	c.(295-297)gaG>gaA	p.E99E	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_Silent_p.E99E|PSMA7_ENST00000370861.1_Silent_p.E29E	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	99					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TGACCGGGTCCTCCACAGTCA	0.627																																						dbGAP											0													68.0	57.0	60.0					20																	60714888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.297G>A	20.37:g.60714888C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.R25K	ENST00000370873.4	37	c.74	CCDS13489.1	20	.	.	.	.	.	.	.	.	.	.	.	4.825	0.153333	0.09185	.	.	ENSG00000101182	ENST00000442551	.	.	.	5.68	3.7	0.42460	.	.	.	.	.	T	0.61236	0.2331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56902	-0.7902	4	.	.	.	.	10.4112	0.44294	0.135:0.7957:0.0:0.0693	.	.	.	.	K	25	.	.	R	-	2	0	PSMA7	60148283	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	1.387000	0.34430	0.708000	0.31955	0.655000	0.94253	AGG	PSMA7	-	pfam_Proteasome_sua/b	ENSG00000101182		0.627	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA7	HGNC	protein_coding	OTTHUMT00000079975.1	13	0.00	0	C	NM_002792		60714888	60714888	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442551	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	T
RABGAP1	23637	genome.wustl.edu	37	9	125863868	125863868	+	Silent	SNP	G	G	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr9:125863868G>A	ENST00000373647.4	+	25	3047	c.2913G>A	c.(2911-2913)cgG>cgA	p.R971R	RABGAP1_ENST00000373643.5_Silent_p.R310R	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	971					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ACTGTGAGCGGTGCCGGGAAT	0.458																																						dbGAP											0													73.0	64.0	67.0					9																	125863868		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2913G>A	9.37:g.125863868G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.R971	ENST00000373647.4	37	c.2913	CCDS6848.2	9																																																																																			RABGAP1	-	NULL	ENSG00000011454		0.458	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	78	0.00	0	G	NM_012197		125863868	125863868	+1	no_errors	ENST00000373647	ensembl	human	known	69_37n	silent	67	17.28	14	SNP	1.000	A
RBM15B	29890	genome.wustl.edu	37	3	51431352	51431353	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr3:51431352_51431353insG	ENST00000323686.4	+	1	2622_2623	c.2522_2523insG	c.(2521-2526)gtggggfs	p.VG841fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	841	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTTGCCAGTGGGGGGGTCCA	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2529dupG	3.37:g.51431359_51431359dupG	ENSP00000313890:p.Val841fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPG7|Q6QE19|Q9BV96	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S844fs	ENST00000323686.4	37	c.2522_2523	CCDS33764.1	3																																																																																			RBM15B	-	pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met	ENSG00000179837		0.609	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM15B	HGNC	protein_coding	OTTHUMT00000346489.1	40	0.00	0	-	NM_013286		51431352	51431353	+1	no_errors	ENST00000323686	ensembl	human	novel	69_37n	frame_shift_ins	26	10.34	3	INS	1.000:1.000	G
REXO2	25996	genome.wustl.edu	37	11	114320615	114320615	+	Missense_Mutation	SNP	G	G	A	rs539159879		TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr11:114320615G>A	ENST00000265881.5	+	7	775	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	REXO2_ENST00000538791.1_Missense_Mutation_p.R121Q|REXO2_ENST00000539754.1_Missense_Mutation_p.R196Q|REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000539275.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	211					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CAGTTTTACCGAAATAACATC	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17094	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													120.0	124.0	122.0					11																	114320615		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.632G>A	11.37:g.114320615G>A	ENSP00000265881:p.Arg211Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.R211Q	ENST00000265881.5	37	c.632	CCDS8371.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.60|18.60	3.659232|3.659232	0.67586|0.67586	.|.	.|.	ENSG00000076043|ENSG00000076043	ENST00000544827|ENST00000265881;ENST00000539754;ENST00000539788;ENST00000538791	.|.	.|.	.|.	5.9|5.9	4.99|4.99	0.66335|0.66335	.|Exonuclease (1);Ribonuclease H-like (1);	.|0.051827	.|0.85682	.|D	.|0.000000	T|T	0.28928|0.28928	0.0718|0.0718	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.44309	.|0.832	.|B	.|0.20767	.|0.031	T|T	0.23119|0.23119	-1.0197|-1.0197	5|9	.|0.72032	.|D	.|0.01	-1.8413|-1.8413	14.3737|14.3737	0.66860|0.66860	0.0704:0.0:0.9296:0.0|0.0704:0.0:0.9296:0.0	.|.	.|211	.|Q9Y3B8	.|ORN_HUMAN	K|Q	171|211;196;85;121	.|.	.|ENSP00000265881:R211Q	E|R	+|+	1|2	0|0	REXO2|REXO2	113825825|113825825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	6.340000|6.340000	0.72973|0.72973	1.502000|1.502000	0.48669|0.48669	-0.143000|-0.143000	0.13931|0.13931	GAA|CGA	REXO2	-	superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000076043		0.358	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	207	0.00	0	G	NM_015523		114320615	114320615	+1	no_errors	ENST00000265881	ensembl	human	known	69_37n	missense	197	30.39	86	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78321232	78321232	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr17:78321232G>C	ENST00000582970.1	+	29	9240	c.9097G>C	c.(9097-9099)Gag>Cag	p.E3033Q	RNF213_ENST00000336301.6_Missense_Mutation_p.E1106Q|RNF213_ENST00000508628.2_Missense_Mutation_p.E3082Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3033					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCGGGTGGAGAGCAGGAAGA	0.562																																						dbGAP											0													62.0	56.0	58.0					17																	78321232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9097G>C	17.37:g.78321232G>C	ENSP00000464087:p.Glu3033Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E3033Q	ENST00000582970.1	37	c.9097	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	0.866	-0.733475	0.03111	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22539	1.95	5.82	-4.49	0.03504	.	1.239670	0.05549	N	0.567140	T	0.13329	0.0323	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36792	-0.9733	10	0.16896	T	0.51	.	9.3082	0.37887	0.2305:0.2966:0.4729:0.0	.	1106	Q63HN8	RN213_HUMAN	Q	3033;3082;1106	ENSP00000338218:E1106Q	ENSP00000338218:E1106Q	E	+	1	0	RNF213	75935827	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.022000	0.13511	-0.485000	0.06754	-1.409000	0.01127	GAG	RNF213	-	NULL	ENSG00000173821		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	43	0.00	0	G	NM_020914		78321232	78321232	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	26	55.17	32	SNP	0.000	C
RYR1	6261	genome.wustl.edu	37	19	39018962	39018962	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr19:39018962A>G	ENST00000359596.3	+	74	10841	c.10841A>G	c.(10840-10842)aAg>aGg	p.K3614R	RYR1_ENST00000355481.4_Missense_Mutation_p.K3609R|RYR1_ENST00000360985.3_Missense_Mutation_p.K3614R|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3614	Interaction with CALM.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CACCCTTACAAGTCTAAGAAG	0.602																																						dbGAP											0													55.0	50.0	52.0					19																	39018962		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10841A>G	19.37:g.39018962A>G	ENSP00000352608:p.Lys3614Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.K3614R	ENST00000359596.3	37	c.10841	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136322	0.37728	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96651	-4.08;-4.08;-4.08	4.81	3.8	0.43715	.	0.000000	0.64402	U	0.000001	D	0.89949	0.6863	L	0.28115	0.83	0.39599	D	0.969705	B;B;B	0.24186	0.099;0.099;0.06	B;B;B	0.22753	0.041;0.041;0.018	T	0.82824	-0.0266	10	0.02654	T	1	.	9.3059	0.37874	0.9133:0.0:0.0867:0.0	.	3614;3609;3614	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	R	3614;3609;3614;534	ENSP00000352608:K3614R;ENSP00000347667:K3609R;ENSP00000354254:K3614R	ENSP00000347667:K3609R	K	+	2	0	RYR1	43710802	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.350000	0.52224	0.882000	0.36016	0.459000	0.35465	AAG	RYR1	-	NULL	ENSG00000196218		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	46	0.00	0	A			39018962	39018962	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	37	38.33	23	SNP	1.000	G
SCAMP2	10066	genome.wustl.edu	37	15	75146427	75146427	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr15:75146427G>A	ENST00000268099.9	-	3	269	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	54					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GACCCAGGGAGTTGGGTGACA	0.542																																						dbGAP											0													119.0	109.0	113.0					15																	75146427		2197	4295	6492	-	-	-	SO:0001583	missense	0			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.160C>T	15.37:g.75146427G>A	ENSP00000268099:p.Leu54Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDF0|Q9BQE8	Missense_Mutation	SNP	pfam_SCAMP	p.L54F	ENST00000268099.9	37	c.160	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783052	0.16189	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.14516	2.5	5.42	-0.141	0.13452	.	1.530160	0.03522	N	0.221117	T	0.09202	0.0227	N	0.14661	0.345	0.09310	N	0.999998	B	0.24426	0.103	B	0.20955	0.032	T	0.35226	-0.9797	10	0.49607	T	0.09	.	6.9545	0.24563	0.0654:0.3468:0.4684:0.1194	.	54	O15127	SCAM2_HUMAN	F	54;23	ENSP00000268099:L54F	ENSP00000268099:L54F	L	-	1	0	SCAMP2	72933480	0.913000	0.31002	0.003000	0.11579	0.951000	0.60555	1.358000	0.34102	-0.001000	0.14495	-0.181000	0.13052	CTC	SCAMP2	-	NULL	ENSG00000140497		0.542	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	HGNC	protein_coding	OTTHUMT00000286403.3	14	0.00	0	G	NM_005697		75146427	75146427	-1	no_errors	ENST00000268099	ensembl	human	known	69_37n	missense	13	48.00	12	SNP	0.334	A
SGCD	6444	genome.wustl.edu	37	5	156074477	156074477	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr5:156074477C>T	ENST00000435422.3	+	6	990	c.503C>T	c.(502-504)gCg>gTg	p.A168V	SGCD_ENST00000447401.1_Missense_Mutation_p.A169V|SGCD_ENST00000517913.1_Missense_Mutation_p.A169V|SGCD_ENST00000337851.4_Missense_Mutation_p.A169V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	168					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.A169V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTACAGGAGCGGAGGGCACA	0.433																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											95.0	89.0	91.0					5																	156074477		1927	4133	6060	-	-	-	SO:0001583	missense	0			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.503C>T	5.37:g.156074477C>T	ENSP00000403003:p.Ala168Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	pfam_Sarcoglycan	p.A169V	ENST00000435422.3	37	c.506	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636998	0.67130	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.71	5.71	0.89125	.	0.101427	0.64402	D	0.000002	D	0.95124	0.8420	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	0.994;0.992;1.0	P;P;D	0.80764	0.734;0.615;0.994	D	0.93986	0.7262	10	0.30854	T	0.27	-12.6482	18.0384	0.89312	0.0:1.0:0.0:0.0	.	168;169;169	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	V	169;168;169;169	ENSP00000429378:A169V;ENSP00000403003:A168V;ENSP00000338343:A169V;ENSP00000408324:A169V	ENSP00000338343:A169V	A	+	2	0	SGCD	156007055	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.557000	0.67313	2.687000	0.91594	0.655000	0.94253	GCG	SGCD	-	pfam_Sarcoglycan	ENSG00000170624		0.433	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3	14	0.00	0	C			156074477	156074477	+1	no_errors	ENST00000337851	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	0.999	T
SIPA1	6494	genome.wustl.edu	37	11	65413699	65413701	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr11:65413699_65413701delGGA	ENST00000394224.3	+	7	1567_1569	c.1271_1273delGGA	c.(1270-1275)cggaag>cag	p.424_425RK>Q	SIPA1_ENST00000394227.3_In_Frame_Del_p.424_425RK>Q|SIPA1_ENST00000527525.1_In_Frame_Del_p.424_425RK>Q|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_In_Frame_Del_p.424_425RK>Q	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	424	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TAGCTCCTCCGGAAGCGCCACAT	0.591																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1271_1273delGGA	11.37:g.65413699_65413701delGGA	ENSP00000377771:p.Arg424_Lys425delinsGln	Somatic		WXS	Illumina GAIIx	Phase_IV	O14518|O60484|O60618|Q2YD83	In_Frame_Del	DEL	pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.RK424in_frame_delQ	ENST00000394224.3	37	c.1271_1273	CCDS8108.1	11																																																																																			SIPA1	-	pfam_Rap_GAP,pfscan_Rap_GAP	ENSG00000213445		0.591	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	68	0.00	0	GGA	NM_006747		65413699	65413701	+1	no_errors	ENST00000394224	ensembl	human	known	69_37n	in_frame_del	67	29.70	30	DEL	1.000:1.000:1.000	-
SLC22A14	9389	genome.wustl.edu	37	3	38348770	38348771	+	Frame_Shift_Del	DEL	CG	CG	-	rs148705199		TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	CG	CG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr3:38348770_38348771delCG	ENST00000273173.4	+	2	633_634	c.542_543delCG	c.(541-543)acgfs	p.T181fs	SLC22A14_ENST00000448498.1_Frame_Shift_Del_p.T181fs	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	181					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGCATGGAGACGAAGAAGGACA	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.542_543delCG	3.37:g.38348770_38348771delCG	ENSP00000273173:p.Thr181fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Frame_Shift_Del	DEL	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T181fs	ENST00000273173.4	37	c.542_543	CCDS2677.1	3																																																																																			SLC22A14	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000144671		0.550	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	54	0.00	0	CG	NM_004803		38348770	38348771	+1	no_errors	ENST00000273173	ensembl	human	known	69_37n	frame_shift_del	48	12.73	7	DEL	0.000:0.000	-
TAS2R43	259289	genome.wustl.edu	37	12	11244488	11244488	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr12:11244488G>C	ENST00000531678.1	-	1	424	c.341C>G	c.(340-342)tCc>tGc	p.S114C	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	114					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AATAAAGTTGGAGAAATTGGC	0.378																																						dbGAP											0													55.0	48.0	50.0					12																	11244488		1884	3922	5806	-	-	-	SO:0001583	missense	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.341C>G	12.37:g.11244488G>C	ENSP00000431719:p.Ser114Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S114C	ENST00000531678.1	37	c.341	CCDS53749.1	12	.	.	.	.	.	.	.	.	.	.	-	11.49	1.653002	0.29336	.	.	ENSG00000255374	ENST00000531678	T	0.37915	1.17	1.97	1.97	0.26223	.	.	.	.	.	T	0.69904	0.3163	H	0.97852	4.09	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.58228	-0.7673	9	0.87932	D	0	.	7.3831	0.26868	0.0:0.0:1.0:0.0	.	114	P59537	T2R43_HUMAN	C	114	ENSP00000431719:S114C	ENSP00000431719:S114C	S	-	2	0	TAS2R43	11135755	0.920000	0.31207	0.057000	0.19452	0.067000	0.16453	1.423000	0.34837	1.092000	0.41356	0.184000	0.17185	TCC	TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.378	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	337	0.00	0	G	NM_176884		11244488	11244488	-1	no_errors	ENST00000531678	ensembl	human	known	69_37n	missense	601	26.37	216	SNP	0.139	C
TMPRSS15	5651	genome.wustl.edu	37	21	19666646	19666646	+	Silent	SNP	G	G	C			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr21:19666646G>C	ENST00000284885.3	-	21	2460	c.2427C>G	c.(2425-2427)ctC>ctG	p.L809L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	809	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGCGCCGCAGAGCAGTCGGC	0.572																																						dbGAP											0													79.0	83.0	82.0					21																	19666646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2427C>G	21.37:g.19666646G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKL7	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L809	ENST00000284885.3	37	c.2427	CCDS13571.1	21																																																																																			TMPRSS15	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000154646		0.572	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	80	0.00	0	G	NM_002772		19666646	19666646	-1	no_errors	ENST00000284885	ensembl	human	known	69_37n	silent	68	34.62	36	SNP	0.102	C
TP53	7157	genome.wustl.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	T	rs17849781		TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr17:7577106G>T	ENST00000269305.4	-	8	1021	c.832C>A	c.(832-834)Cct>Act	p.P278T	TP53_ENST00000455263.2_Missense_Mutation_p.P278T|TP53_ENST00000359597.4_Missense_Mutation_p.P278T|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.P278T|TP53_ENST00000420246.2_Missense_Mutation_p.P278T	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		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"""	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	GRCh37	CM011015|CM052927	TP53	M	rs17849781						72.0	62.0	65.0					17																	7577106		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>A	17.37:g.7577106G>T	ENSP00000269305:p.Pro278Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278T	ENST00000269305.4	37	c.832	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953650	0.92660	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99894	0.9949	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;0.997	D	0.96194	0.9140	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	278;278;278;278;278;267;146	ENSP00000352610:P278T;ENSP00000269305:P278T;ENSP00000398846:P278T;ENSP00000391127:P278T;ENSP00000391478:P278T;ENSP00000425104:P146T	ENSP00000269305:P278T	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	55	0.00	0	G	NM_000546		7577106	7577106	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	40	49.37	39	SNP	1.000	T
USP12	219333	genome.wustl.edu	37	13	27679970	27679970	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr13:27679970G>T	ENST00000282344.6	-	3	497	c.241C>A	c.(241-243)Ctt>Att	p.L81I		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	81	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AAGCATGTAAGAAGGCTCTCC	0.398																																					Ovarian(37;808 911 7590 44442 44991)	dbGAP											0													96.0	95.0	96.0					13																	27679970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.241C>A	13.37:g.27679970G>T	ENSP00000282344:p.Leu81Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L81I	ENST00000282344.6	37	c.241	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100273	0.76983	.	.	ENSG00000152484	ENST00000282344	T	0.06142	3.34	5.41	3.66	0.41972	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.106561	0.64402	D	0.000003	T	0.15998	0.0385	M	0.62723	1.935	0.58432	D	0.999999	D	0.55385	0.971	P	0.56278	0.795	T	0.00317	-1.1822	10	0.66056	D	0.02	-15.3811	11.2898	0.49244	0.0692:0.1278:0.803:0.0	.	81	O75317	UBP12_HUMAN	I	81	ENSP00000282344:L81I	ENSP00000282344:L81I	L	-	1	0	USP12	26577970	1.000000	0.71417	0.051000	0.19133	0.990000	0.78478	7.807000	0.86032	0.743000	0.32719	0.555000	0.69702	CTT	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000152484		0.398	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	138	0.00	0	G	NM_182488		27679970	27679970	-1	no_errors	ENST00000282344	ensembl	human	known	69_37n	missense	233	19.66	57	SNP	0.998	T
USP36	57602	genome.wustl.edu	37	17	76799860	76799861	+	Frame_Shift_Ins	INS	-	-	G	rs3088040|rs537129179	byFrequency	TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr17:76799860_76799861insG	ENST00000542802.3	-	16	2859_2860	c.2416_2417insC	c.(2416-2418)cagfs	p.Q806fs	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Frame_Shift_Ins_p.Q806fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	806			Q -> R (in dbSNP:rs3088040). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGAGGGGCTCTGGGGGGGCTCA	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2417dupC	17.37:g.76799867_76799867dupG	ENSP00000441214:p.Gln806fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q806fs	ENST00000542802.3	37	c.2417_2416	CCDS32755.1	17																																																																																			USP36	-	NULL	ENSG00000055483		0.629	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	14	0.00	0	-	NM_025090		76799860	76799861	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	frame_shift_ins	29	14.71	5	INS	0.000:0.000	G
WWC3	55841	genome.wustl.edu	37	X	10102551	10102551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chrX:10102551delC	ENST00000380861.4	+	19	3069	c.2678delC	c.(2677-2679)gccfs	p.A893fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.A893fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	893					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCGCCGGGCCCGAGGGTCG	0.562																																						dbGAP											0													101.0	104.0	103.0					X																	10102551		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2678delC	X.37:g.10102551delC	ENSP00000370242:p.Ala893fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Del	DEL	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R894fs	ENST00000380861.4	37	c.2678	CCDS14136.1	X																																																																																			WWC3	-	NULL	ENSG00000047644		0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	176	0.00	0	C	NM_015691		10102551	10102551	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	frame_shift_del	109	36.41	71	DEL	0.075	-
XKR4	114786	genome.wustl.edu	37	8	56435863	56435863	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr8:56435863G>A	ENST00000327381.6	+	3	1130	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	344						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCTTCCCTCGTGTCCCTGGC	0.572																																						dbGAP											0													53.0	50.0	51.0					8																	56435863		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1030G>A	8.37:g.56435863G>A	ENSP00000328326:p.Val344Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.V344M	ENST00000327381.6	37	c.1030	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173771	0.57692	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.66280	-0.2	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.40543	1.245	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.64980	-0.6279	10	0.19590	T	0.45	-0.6592	19.8155	0.96566	0.0:0.0:1.0:0.0	.	344	Q5GH76	XKR4_HUMAN	M	344	ENSP00000328326:V344M	ENSP00000328326:V344M	V	+	1	0	XKR4	56598417	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	7.876000	0.87215	2.682000	0.91365	0.650000	0.86243	GTG	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.572	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	86	0.00	0	G	NM_052898		56435863	56435863	+1	no_errors	ENST00000327381	ensembl	human	known	69_37n	missense	119	27.44	45	SNP	0.999	A
ZFPM2	23414	genome.wustl.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr8:106814408G>A	ENST00000407775.2	+	8	2348	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E431K|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E568K|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E568K|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	700					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488																																						dbGAP											0													69.0	66.0	67.0					8																	106814408		2027	4188	6215	-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2098G>A	8.37:g.106814408G>A	ENSP00000384179:p.Glu700Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E700K	ENST00000407775.2	37	c.2098	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831317	0.91036	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13019	-1.0525	10	0.25106	T	0.35	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	700	Q8WW38	FOG2_HUMAN	K	700;568;568;431	ENSP00000384179:E700K;ENSP00000430757:E568K;ENSP00000428720:E568K;ENSP00000367733:E431K	ENSP00000367733:E431K	E	+	1	0	ZFPM2	106883584	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	9.869000	0.99810	2.708000	0.92522	0.561000	0.74099	GAA	ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.488	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	88	0.00	0	G			106814408	106814408	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense	91	26.61	33	SNP	1.000	A
ZNF655	79027	genome.wustl.edu	37	7	99158245	99158245	+	Silent	SNP	G	G	A			TCGA-BH-A0B9-01A-11W-A071-09	TCGA-BH-A0B9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c57595bb-7953-4611-b0d1-3c2c40feb3b9	02613b8d-b01c-401a-a0be-71f258dea92a	g.chr7:99158245G>A	ENST00000394163.2	+	2	246	c.63G>A	c.(61-63)gaG>gaA	p.E21E	GS1-259H13.10_ENST00000455905.1_Silent_p.E21E|GS1-259H13.10_ENST00000486324.1_3'UTR|ZNF655_ENST00000449244.1_Silent_p.E21E|ZNF655_ENST00000424881.1_Silent_p.E21E|ZNF655_ENST00000320583.5_Silent_p.E21E|ZNF655_ENST00000493277.1_Silent_p.E21E|ZNF655_ENST00000425063.1_Silent_p.E21E|ZNF655_ENST00000454654.1_Silent_p.E21E|ZNF655_ENST00000440391.1_Silent_p.E21E|ZNF655_ENST00000252713.4_Silent_p.E21E|ZNF655_ENST00000357864.2_Silent_p.E21E	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	21					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCTTTGGAGACCCAGTCTG	0.547																																						dbGAP											0													119.0	114.0	115.0					7																	99158245		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.63G>A	7.37:g.99158245G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E21	ENST00000394163.2	37	c.63	CCDS5669.1	7																																																																																			ZNF655	-	NULL	ENSG00000197343		0.547	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ZNF655	HGNC	protein_coding	OTTHUMT00000344929.1	52	0.00	0	G	NM_138494		99158245	99158245	+1	no_errors	ENST00000424881	ensembl	human	known	69_37n	silent	67	33.00	33	SNP	0.315	A
