#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
ACER3	55331	genome.wustl.edu	37	11	76696702	76696702	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr11:76696702G>T	ENST00000532485.1	+	5	440	c.336G>T	c.(334-336)aaG>aaT	p.K112N	ACER3_ENST00000526597.1_Missense_Mutation_p.K17N|ACER3_ENST00000533873.1_Missense_Mutation_p.K75N|ACER3_ENST00000538157.1_Missense_Mutation_p.K70N|ACER3_ENST00000530182.1_3'UTR	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	112					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						AATGTTTCAAGATCAAGAACT	0.294																																						dbGAP											0													79.0	77.0	77.0					11																	76696702		2196	4289	6485	-	-	-	SO:0001583	missense	0			AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"""Alkaline ceramidase"""	16066	protein-coding gene	gene with protein product	"""alkaline phytoceramidase"""		"""phytoceramidase, alkaline"""	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.336G>T	11.37:g.76696702G>T	ENSP00000434480:p.Lys112Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC99	Missense_Mutation	SNP	pfam_Ceramidase	p.K112N	ENST00000532485.1	37	c.336	CCDS8247.1	11	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043455	0.55003	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000530243	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.24	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.60067	1.865	0.80722	D	1	P;D	0.64830	0.955;0.994	P;D	0.63703	0.745;0.917	T	0.47849	-0.9085	10	0.18276	T	0.48	-10.4261	9.575	0.39452	0.0938:0.0:0.9062:0.0	.	75;112	B7Z2Q2;Q9NUN7	.;ACER3_HUMAN	N	70;112;17;75;70;70	ENSP00000435733:K70N;ENSP00000434480:K112N;ENSP00000431149:K17N;ENSP00000436252:K75N;ENSP00000440916:K70N	ENSP00000431149:K17N	K	+	3	2	ACER3	76374350	0.999000	0.42202	0.889000	0.34880	0.933000	0.57130	3.563000	0.53784	1.457000	0.47850	0.655000	0.94253	AAG	ACER3	-	pfam_Ceramidase	ENSG00000078124		0.294	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER3	HGNC	protein_coding	OTTHUMT00000382770.2	319	0.00	0	G	NM_018367		76696702	76696702	+1	no_errors	ENST00000532485	ensembl	human	known	69_37n	missense	14	65.85	27	SNP	0.928	T
ALS2CR11	151254	genome.wustl.edu	37	2	202356525	202356525	+	Intron	SNP	T	T	C			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr2:202356525T>C	ENST00000286195.3	-	15	1626				ALS2CR11_ENST00000439140.1_Silent_p.Q1513Q|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AAGCTTTTGATTGAGTTATTT	0.368																																						dbGAP											0													161.0	119.0	132.0					2																	202356525		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1582-3900A>G	2.37:g.202356525T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q1513	ENST00000286195.3	37	c.4539	CCDS2349.1	2																																																																																			ALS2CR11	-	NULL	ENSG00000155754		0.368	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	289	0.00	0	T	NM_152525		202356525	202356525	-1	no_errors	ENST00000439140	ensembl	human	novel	69_37n	silent	84	32.80	41	SNP	0.018	C
ANKFN1	162282	genome.wustl.edu	37	17	54431265	54431265	+	Silent	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr17:54431265C>T	ENST00000318698.2	+	5	503	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ANKFN1_ENST00000566473.2_Silent_p.L156L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	156										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCAGATCCTCCTGTATCAGT	0.483																																						dbGAP											0													207.0	145.0	166.0					17																	54431265		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.468C>T	17.37:g.54431265C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.L156	ENST00000318698.2	37	c.468	CCDS32686.1	17																																																																																			ANKFN1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000153930		0.483	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	89	0.00	0	C	NM_153228		54431265	54431265	+1	no_errors	ENST00000318698	ensembl	human	known	69_37n	silent	52	30.67	23	SNP	0.988	T
BRMS1	25855	genome.wustl.edu	37	11	66105190	66105190	+	3'UTR	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr11:66105190C>T	ENST00000359957.3	-	0	1064				BRMS1_ENST00000425825.2_Nonsense_Mutation_p.W274*|RIN1_ENST00000530056.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000311320.4_5'Flank|RIN1_ENST00000424433.2_5'Flank	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1						apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GAGGAGGAGTCCAGGCCAGTG	0.682																																					GBM(7;55 307 2662 20856 28942)	dbGAP											0													20.0	27.0	25.0					11																	66105190		2197	4294	6491	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.*163G>A	11.37:g.66105190C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAI2	Nonsense_Mutation	SNP	pfam_Sds3	p.W274*	ENST00000359957.3	37	c.822	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.80|16.80	3.223240|3.223240	0.58668|0.58668	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000524699|ENST00000425825	.|.	.|.	.|.	3.05|3.05	0.954|0.954	0.19595|0.19595	.|.	.|.	.|.	.|.	.|.	T|.	0.25195|.	0.0612|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22730|.	-1.0208|.	4|.	.|0.32370	.|T	.|0.25	.|.	3.5377|3.5377	0.07799|0.07799	0.0:0.5709:0.2651:0.164|0.0:0.5709:0.2651:0.164	.|.	.|.	.|.	.|.	N|X	251|274	.|.	.|ENSP00000396052:W274X	D|W	-|-	1|3	0|0	BRMS1|BRMS1	65861766|65861766	0.053000|0.053000	0.20554|0.20554	0.008000|0.008000	0.14137|0.14137	0.462000|0.462000	0.32619|0.32619	0.330000|0.330000	0.19715|0.19715	0.265000|0.265000	0.21872|0.21872	0.195000|0.195000	0.17529|0.17529	GAC|TGG	BRMS1	-	NULL	ENSG00000174744		0.682	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	28	0.00	0	C	NM_015399		66105190	66105190	-1	no_errors	ENST00000425825	ensembl	human	known	69_37n	nonsense	36	14.29	6	SNP	0.009	T
C4orf50	389197	genome.wustl.edu	37	4	5977632	5977632	+	Silent	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr4:5977632G>A	ENST00000324058.5	-	3	308	c.219C>T	c.(217-219)ccC>ccT	p.P73P	C4orf50_ENST00000531445.1_Silent_p.P547P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	73										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TTACCTTCAGGGGAGTCACTG	0.368																																						dbGAP											0													116.0	112.0	113.0					4																	5977632		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.219C>T	4.37:g.5977632G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P547	ENST00000324058.5	37	c.1641		4																																																																																			C4orf50	-	NULL	ENSG00000181215		0.368	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		227	0.00	0	G	NM_207405		5977632	5977632	-1	no_errors	ENST00000531445	ensembl	human	known	69_37n	silent	50	29.58	21	SNP	0.496	A
C9orf3	84909	genome.wustl.edu	37	9	97522324	97522325	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr9:97522324_97522325GC>TT	ENST00000375315.2	+	1	259_260	c.259_260GC>TT	c.(259-261)GCa>TTa	p.A87L	C9orf3_ENST00000297979.5_Missense_Mutation_p.A87L|C9orf3_ENST00000277198.2_Missense_Mutation_p.A87L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	87					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CGTGACAAATGCAAGGACCTTC	0.396																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	Exception_encountered	9.37:g.97522324_97522325delinsTT	ENSP00000364464:p.Ala87Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.A87S|p.A87V	ENST00000375315.2	37	c.259|c.260	CCDS55328.1	9																																																																																			C9orf3	-	NULL	ENSG00000148120		0.396	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		79|77	0.00	0	G|C	NM_032823		97522324|97522325	97522324|97522325	+1	no_errors	ENST00000375315	ensembl	human	known	69_37n	missense	39|38	37.10|36.07	23|22	SNP	0.368|0.861	T
CCDC136	64753	genome.wustl.edu	37	7	128444776	128444776	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr7:128444776G>A	ENST00000297788.4	+	5	1110	c.743G>A	c.(742-744)aGc>aAc	p.S248N	CCDC136_ENST00000464832.1_Missense_Mutation_p.S298N|CCDC136_ENST00000487361.1_Missense_Mutation_p.S248N|CCDC136_ENST00000378685.4_Missense_Mutation_p.S286N	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	248	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGAGCAACAGCAGCCTCACG	0.572																																						dbGAP											0													33.0	36.0	35.0					7																	128444776		2020	4184	6204	-	-	-	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.743G>A	7.37:g.128444776G>A	ENSP00000297788:p.Ser248Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.S248N	ENST00000297788.4	37	c.743	CCDS47704.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.085975|3.085975	0.55861|0.55861	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	.|D;D;T;T	.|0.83075	.|-1.68;-1.68;0.86;1.39	6.08|6.08	5.19|5.19	0.71726|0.71726	.|.	.|0.252557	.|0.51477	.|D	.|0.000083	D|D	0.88175|0.88175	0.6366|0.6366	M|M	0.64997|0.64997	1.995|1.995	0.37556|0.37556	D|D	0.918883|0.918883	.|D;D;P	.|0.76494	.|0.98;0.999;0.867	.|P;D;P	.|0.64877	.|0.731;0.93;0.544	D|D	0.88189|0.88189	0.2876|0.2876	5|10	.|0.28530	.|T	.|0.3	-16.5704|-16.5704	14.5637|14.5637	0.68159|0.68159	0.0:0.0:0.8526:0.1474|0.0:0.0:0.8526:0.1474	.|.	.|248;248;286	.|C9JE17;Q96JN2;Q96JN2-3	.|.;CC136_HUMAN;.	T|N	125|286;298;248;248;248;248	.|ENSP00000367956:S286N;ENSP00000419515:S298N;ENSP00000420509:S248N;ENSP00000297788:S248N	.|ENSP00000297788:S248N	A|S	+|+	1|2	0|0	CCDC136|CCDC136	128232012|128232012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.379000|0.379000	0.30106|0.30106	2.197000|2.197000	0.42696|0.42696	1.565000|1.565000	0.49641|0.49641	-0.182000|-0.182000	0.12963|0.12963	GCA|AGC	CCDC136	-	NULL	ENSG00000128596		0.572	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	45	0.00	0	G	NM_022742		128444776	128444776	+1	no_errors	ENST00000297788	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	A
CPEB1	64506	genome.wustl.edu	37	15	83224732	83224732	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr15:83224732A>C	ENST00000562019.1	-	5	1063	c.747T>G	c.(745-747)agT>agG	p.S249R	CPEB1_ENST00000261723.6_Missense_Mutation_p.S252R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S249R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S174R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S174R|CPEB1_ENST00000563800.1_Missense_Mutation_p.S276R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S23R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.S174R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S174R|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000423133.2_Missense_Mutation_p.S174R			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	249					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTTTGAAGCACTGGTTGGGG	0.592																																						dbGAP											0													50.0	52.0	51.0					15																	83224732		1959	4136	6095	-	-	-	SO:0001583	missense	0			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.747T>G	15.37:g.83224732A>C	ENSP00000457836:p.Ser249Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	pfscan_RRM_dom	p.S249R	ENST00000562019.1	37	c.747		15	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605523	0.46527	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.66	-0.833	0.10782	.	0.161580	0.39475	U	0.001352	T	0.05547	0.0146	L	0.29908	0.895	0.21984	N	0.999439	P;B;P;P	0.45474	0.859;0.145;0.773;0.859	B;B;B;B	0.40009	0.316;0.107;0.165;0.316	T	0.34030	-0.9845	10	0.52906	T	0.07	-4.9383	7.7734	0.29021	0.4848:0.1173:0.3979:0.0	.	252;249;249;249	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	R	249;249;174;174;252;23	ENSP00000397526:S174R;ENSP00000381591:S174R;ENSP00000261723:S252R;ENSP00000381592:S23R	ENSP00000261723:S252R	S	-	3	2	CPEB1	81021787	0.219000	0.23619	0.975000	0.42487	0.984000	0.73092	0.294000	0.19047	-0.117000	0.11872	-0.256000	0.11100	AGT	CPEB1	-	NULL	ENSG00000214575		0.592	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	30	0.00	0	A	NM_030594		83224732	83224732	-1	no_errors	ENST00000562019	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.111	C
CTTNBP2	83992	genome.wustl.edu	37	7	117431308	117431308	+	Missense_Mutation	SNP	G	G	T	rs116692992	byFrequency	TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr7:117431308G>T	ENST00000160373.3	-	4	2033	c.1942C>A	c.(1942-1944)Caa>Aaa	p.Q648K	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	648					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATGCAGGTTGGTTCAGTCCG	0.557																																						dbGAP											0													109.0	97.0	101.0					7																	117431308		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1942C>A	7.37:g.117431308G>T	ENSP00000160373:p.Gln648Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q648K	ENST00000160373.3	37	c.1942	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298009	0.60086	.	.	ENSG00000077063	ENST00000160373	T	0.64803	-0.12	5.74	5.74	0.90152	.	0.309404	0.40469	N	0.001093	T	0.58090	0.2098	L	0.48362	1.52	0.53005	D	0.999961	B	0.28713	0.22	B	0.24541	0.054	T	0.52283	-0.8596	10	0.31617	T	0.26	0.0116	20.2982	0.98569	0.0:0.0:1.0:0.0	.	648	Q8WZ74	CTTB2_HUMAN	K	648	ENSP00000160373:Q648K	ENSP00000160373:Q648K	Q	-	1	0	CTTNBP2	117218544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.203000	0.77864	2.873000	0.98535	0.563000	0.77884	CAA	CTTNBP2	-	NULL	ENSG00000077063		0.557	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	68	0.00	0	G	NM_033427		117431308	117431308	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	1.000	T
EPRS	2058	genome.wustl.edu	37	1	220152916	220152916	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr1:220152916C>T	ENST00000366923.3	-	27	4022	c.3753G>A	c.(3751-3753)atG>atA	p.M1251I		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1251	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CGATTTCAAACATTTTGGAAA	0.358																																						dbGAP											0													102.0	104.0	104.0					1																	220152916		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3753G>A	1.37:g.220152916C>T	ENSP00000355890:p.Met1251Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.M1251I	ENST00000366923.3	37	c.3753	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300065	0.81136	.	.	ENSG00000136628	ENST00000366923	T	0.29142	1.58	5.93	5.93	0.95920	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	M	0.86864	2.845	0.80722	D	1	P	0.51147	0.942	P	0.44897	0.463	T	0.59295	-0.7481	10	0.66056	D	0.02	-34.4292	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1251	P07814	SYEP_HUMAN	I	1251	ENSP00000355890:M1251I	ENSP00000355890:M1251I	M	-	3	0	EPRS	218219539	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.487000	0.81328	2.814000	0.96858	0.563000	0.77884	ATG	EPRS	-	pfscan_aa-tRNA-synth_II,tigrfam_Pro-tRNA-synth_IIa_arc-type	ENSG00000136628		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	287	0.00	0	C	NM_004446		220152916	220152916	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	missense	99	12.39	14	SNP	1.000	T
FASTK	10922	genome.wustl.edu	37	7	150774052	150774052	+	Missense_Mutation	SNP	G	G	C	rs367561144		TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr7:150774052G>C	ENST00000297532.6	-	9	1567	c.1490C>G	c.(1489-1491)tCg>tGg	p.S497W	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000353841.2_Missense_Mutation_p.S356W|FASTK_ENST00000482571.1_Missense_Mutation_p.S470W|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	497	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGGGCCCTCGAGCCCAGCAG	0.716																																						dbGAP											0													19.0	23.0	22.0					7																	150774052		2198	4297	6495	-	-	-	SO:0001583	missense	0				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1490C>G	7.37:g.150774052G>C	ENSP00000297532:p.Ser497Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.S497W	ENST00000297532.6	37	c.1490	CCDS5918.1	7	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301180	0.60195	.	.	ENSG00000164896	ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.32988	1.81;1.76;1.43	3.78	3.78	0.43462	RAP domain (3);	0.437819	0.19725	N	0.107492	T	0.39708	0.1088	N	0.22421	0.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.14980	-1.0453	10	0.37606	T	0.19	1.3119	13.9821	0.64310	0.0:0.0:1.0:0.0	.	470;356;497	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	W	356;497;470	ENSP00000324817:S356W;ENSP00000297532:S497W;ENSP00000418516:S470W	ENSP00000297532:S497W	S	-	2	0	FASTK	150404985	1.000000	0.71417	0.927000	0.36925	0.699000	0.40488	5.433000	0.66520	2.400000	0.81607	0.561000	0.74099	TCG	FASTK	-	pfam_RAP,smart_RAP	ENSG00000164896		0.716	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	HGNC	protein_coding	OTTHUMT00000351832.2	16	0.00	0	G	NM_006712		150774052	150774052	-1	no_errors	ENST00000297532	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.996	C
GAGE13	645051	genome.wustl.edu	37	X	49192696	49192696	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chrX:49192696C>T	ENST00000381751.1	+	4	291	c.209C>T	c.(208-210)cCg>cTg	p.P70L		NM_001098412.1	NP_001091882.1	Q4V321	GAG13_HUMAN	G antigen 13	70												Ovarian(276;0.236)					TTTTAAGGGCCGAAGCCTGAA	0.413																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					Xp11.23	2008-05-13	2007-07-23	2007-07-23	ENSG00000237597	ENSG00000274274			29081	protein-coding gene	gene with protein product		300734	"""G antigen 12A"""	GAGE12A			Standard	NM_001098412		Approved	OTTHUMG00000024138		Q4V321	OTTHUMG00000024138	ENST00000381751.1:c.209C>T	X.37:g.49192696C>T	ENSP00000371170:p.Pro70Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GAGE	p.P70L	ENST00000381751.1	37	c.209	CCDS48110.1	X	.	.	.	.	.	.	.	.	.	.	.	6.604	0.479908	0.12581	.	.	ENSG00000237597	ENST00000381751	T	0.09817	2.94	1.16	1.16	0.20824	.	.	.	.	.	T	0.10380	0.0254	L	0.58925	1.835	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.26744	-1.0094	9	0.33940	T	0.23	.	5.3019	0.15783	0.0:1.0:0.0:0.0	.	70	Q4V321	GAG13_HUMAN	L	70	ENSP00000371170:P70L	ENSP00000371170:P70L	P	+	2	0	GAGE13	49079640	0.145000	0.22656	0.010000	0.14722	0.023000	0.10783	0.130000	0.15850	0.861000	0.35504	0.279000	0.19357	CCG	GAGE13	-	pfam_GAGE	ENSG00000237597		0.413	GAGE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE13	HGNC	protein_coding	OTTHUMT00000060818.2	18	0.00	0	C			49192696	49192696	+1	no_errors	ENST00000381751	ensembl	human	known	69_37n	missense	45	30.77	20	SNP	0.009	T
GATA3	2625	genome.wustl.edu	37	10	8115979	8115980	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr10:8115979_8115980insG	ENST00000346208.3	+	6	1780_1781	c.1325_1326insG	c.(1324-1329)atgggtfs	p.MG442fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.MG443fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	442					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M443I(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GTCACCGCCATGGGTTAGAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	2	Substitution - Missense(2)	lung(2)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1328dupG	10.37:g.8115982_8115982dupG	ENSP00000341619:p.Met442fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.*445fs	ENST00000346208.3	37	c.1328_1329	CCDS7083.1	10																																																																																			GATA3	-	NULL	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	21	0.00	0	-	NM_001002295		8115979	8115980	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	37	11.90	5	INS	1.000:1.000	G
GPM6B	2824	genome.wustl.edu	37	X	13834993	13834993	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chrX:13834993C>G	ENST00000356942.5	-	1	472	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q	GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000493677.1_5'UTR|GPM6B_ENST00000355135.2_Missense_Mutation_p.E11Q|GPM6B_ENST00000316715.4_Missense_Mutation_p.E11Q|GPM6B_ENST00000398361.3_Intron	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	11					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TCAGTATTTTCCTCGGCTGCA	0.478																																						dbGAP											0													274.0	244.0	254.0					X																	13834993		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.31G>C	X.37:g.13834993C>G	ENSP00000349420:p.Glu11Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O76077|Q86X43|Q8N956	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.E11Q	ENST00000356942.5	37	c.31	CCDS14158.1	X	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782802	0.49891	.	.	ENSG00000046653	ENST00000316715;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D	0.99557	-6.16;-6.13;-5.61;-4.82	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000083	D	0.97448	0.9165	N	0.03608	-0.345	0.80722	D	1	B;P;P	0.38504	0.02;0.634;0.546	B;B;B	0.39465	0.011;0.3;0.1	D	0.98548	1.0635	10	0.41790	T	0.15	-5.0604	17.7231	0.88357	0.0:1.0:0.0:0.0	.	11;11;11	Q13491;Q13491-3;Q8N956	GPM6B_HUMAN;.;.	Q	11	ENSP00000316861:E11Q;ENSP00000347258:E11Q;ENSP00000349420:E11Q;ENSP00000418594:E11Q	ENSP00000316861:E11Q	E	-	1	0	GPM6B	13744914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.323000	0.65858	2.373000	0.80994	0.594000	0.82650	GAA	GPM6B	-	NULL	ENSG00000046653		0.478	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPM6B	HGNC	protein_coding	OTTHUMT00000055822.1	334	0.00	0	C	NM_001001995		13834993	13834993	-1	no_errors	ENST00000316715	ensembl	human	known	69_37n	missense	183	23.43	56	SNP	1.000	G
MROH2B	133558	genome.wustl.edu	37	5	41004585	41004586	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr5:41004585_41004586GG>TT	ENST00000399564.4	-	37	4506_4507	c.4056_4057CC>AA	c.(4054-4059)ggCCtg>ggAAtg	p.L1353M	MROH2B_ENST00000506092.2_Missense_Mutation_p.L908M	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1353								p.L1353M(1)									AGGTGATACAGGCCTCTGATGA	0.406																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4056_4057delinsTT	5.37:g.41004585_41004586delinsTT	ENSP00000382476:p.Leu1353Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation|Silent	SNP	superfamily_ARM-type_fold	p.L1353M|p.G1352	ENST00000399564.4	37	c.4057|c.4056	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.406	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	292|293	0.00	0	G	NM_173489		41004585|41004586	41004585|41004586	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense|silent	73	14.12	12	SNP	1.000|0.998	T
IRGC	56269	genome.wustl.edu	37	19	44222997	44222997	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr19:44222997C>T	ENST00000244314.5	+	2	486	c.287C>T	c.(286-288)cCg>cTg	p.P96L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	96	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACGATGCAACCGTCGCCCTAT	0.662																																					Colon(189;350 2037 11447 13433 38914)	dbGAP											0													36.0	34.0	35.0					19																	44222997		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.287C>T	19.37:g.44222997C>T	ENSP00000244314:p.Pro96Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BR8	Missense_Mutation	SNP	pfam_Interferon-induced_GTPase	p.P96L	ENST00000244314.5	37	c.287	CCDS12629.1	19	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328040	0.24080	.	.	ENSG00000124449	ENST00000244314	T	0.23147	1.92	5.45	3.24	0.37175	.	0.256209	0.32068	N	0.006626	T	0.29061	0.0722	L	0.45422	1.42	0.09310	N	0.999995	D	0.53151	0.958	P	0.51355	0.667	T	0.06058	-1.0848	10	0.52906	T	0.07	.	8.8488	0.35188	0.1702:0.666:0.1639:0.0	.	96	Q6NXR0	IIGP5_HUMAN	L	96	ENSP00000244314:P96L	ENSP00000244314:P96L	P	+	2	0	IRGC	48914837	0.836000	0.29430	0.001000	0.08648	0.219000	0.24729	3.003000	0.49505	0.626000	0.30322	0.555000	0.69702	CCG	IRGC	-	pfam_Interferon-induced_GTPase	ENSG00000124449		0.662	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	17	0.00	0	C	NM_019612		44222997	44222997	+1	no_errors	ENST00000244314	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.002	T
KCNN3	3782	genome.wustl.edu	37	1	154842244	154842244	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr1:154842244A>T	ENST00000271915.4	-	1	512	c.197T>A	c.(196-198)cTt>cAt	p.L66H	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgaagctgcggagg	0.701																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197T>A	1.37:g.154842244A>T	ENSP00000271915:p.Leu66His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.L66H	ENST00000271915.4	37	c.197	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	a	9.986	1.229557	0.22542	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58060	0.36	4.47	-1.06	0.10002	.	2.530250	0.01603	N	0.022141	T	0.17152	0.0412	N	0.08118	0	0.35103	D	0.765442	.	.	.	.	.	.	T	0.03807	-1.1002	8	0.72032	D	0.01	-1.1381	4.5154	0.11932	0.5982:0.0:0.2622:0.1396	.	.	.	.	H	66;161	ENSP00000271915:L66H	ENSP00000271915:L66H	L	-	2	0	KCNN3	153108868	0.001000	0.12720	0.839000	0.33178	0.980000	0.70556	0.019000	0.13444	0.013000	0.14918	0.460000	0.39030	CTT	KCNN3	-	NULL	ENSG00000143603		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	8	0.00	0	A	NM_002249		154842244	154842244	-1	no_errors	ENST00000271915	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.166	T
LIM2	3982	genome.wustl.edu	37	19	51890496	51890496	+	Intron	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr19:51890496G>A	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Missense_Mutation_p.R68C	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCCAGGCGCGGCCTGGACCC	0.652																																						dbGAP											0													51.0	56.0	54.0					19																	51890496		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.175+26C>T	19.37:g.51890496G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.R68C	ENST00000596399.1	37	c.202	CCDS59415.1	19	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611661	0.14066	.	.	ENSG00000105370	ENST00000221973	.	.	.	3.63	-7.26	0.01466	.	2.742020	0.01895	U	0.038821	T	0.19208	0.0461	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07966	-1.0745	8	0.38643	T	0.18	.	1.154	0.01792	0.1581:0.3117:0.2874:0.2428	.	68	P55344-2	.	C	68	.	ENSP00000221973:R68C	R	-	1	0	LIM2	56582308	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.088000	0.00610	-2.010000	0.00953	-1.292000	0.01352	CGC	LIM2	-	NULL	ENSG00000105370		0.652	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	HGNC	protein_coding	OTTHUMT00000464247.1	19	0.00	0	G	NM_030657		51890496	51890496	-1	no_errors	ENST00000221973	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.000	A
LNX1	84708	genome.wustl.edu	37	4	54362438	54362438	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr4:54362438G>T	ENST00000263925.7	-	6	1416	c.1102C>A	c.(1102-1104)Cag>Aag	p.Q368K	LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.Q272K	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	368					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCGGGGCCTGTCCATTGTTC	0.562																																						dbGAP											0													67.0	70.0	69.0					4																	54362438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1102C>A	4.37:g.54362438G>T	ENSP00000263925:p.Gln368Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.Q368K	ENST00000263925.7	37	c.1102	CCDS47057.1	4	.	.	.	.	.	.	.	.	.	.	G	3.254	-0.152705	0.06585	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.07216	3.21;4.62	5.29	4.43	0.53597	.	0.871768	0.10301	N	0.691174	T	0.06872	0.0175	L	0.34521	1.04	0.09310	N	1	B;B	0.21905	0.06;0.062	B;B	0.25614	0.021;0.062	T	0.39396	-0.9616	10	0.06365	T	0.9	.	9.9847	0.41835	0.0734:0.1371:0.7895:0.0	.	368;272	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	K	272;206;368	ENSP00000302879:Q272K;ENSP00000263925:Q368K	ENSP00000263925:Q368K	Q	-	1	0	LNX1	54057195	0.829000	0.29322	0.007000	0.13788	0.005000	0.04900	4.243000	0.58721	2.756000	0.94617	0.561000	0.74099	CAG	LNX1	-	NULL	ENSG00000072201		0.562	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	33	0.00	0	G			54362438	54362438	-1	no_errors	ENST00000263925	ensembl	human	known	69_37n	missense	29	49.12	28	SNP	0.030	T
LRBA	987	genome.wustl.edu	37	4	151793884	151793884	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr4:151793884G>A	ENST00000357115.3	-	18	2432	c.2189C>T	c.(2188-2190)tCg>tTg	p.S730L	LRBA_ENST00000510413.1_Missense_Mutation_p.S730L|LRBA_ENST00000535741.1_Missense_Mutation_p.S730L|LRBA_ENST00000507224.1_Missense_Mutation_p.S730L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	730						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCACTTTTCGATGCCAGAAG	0.303																																						dbGAP											0													81.0	80.0	81.0					4																	151793884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2189C>T	4.37:g.151793884G>A	ENSP00000349629:p.Ser730Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S730L	ENST00000357115.3	37	c.2189	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.189814	0.94923	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.269957	0.31392	N	0.007727	D	0.83294	0.5223	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.782;0.996	D	0.83584	0.0119	10	0.59425	D	0.04	.	20.0714	0.97726	0.0:0.0:1.0:0.0	.	730;730	P50851;P50851-2	LRBA_HUMAN;.	L	730	ENSP00000446299:S730L;ENSP00000421552:S730L;ENSP00000349629:S730L;ENSP00000422180:S730L	ENSP00000349629:S730L	S	-	2	0	LRBA	152013334	1.000000	0.71417	0.980000	0.43619	0.953000	0.61014	9.476000	0.97823	2.750000	0.94351	0.585000	0.79938	TCG	LRBA	-	superfamily_ARM-type_fold	ENSG00000198589		0.303	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	155	0.00	0	G			151793884	151793884	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	17	45.16	14	SNP	1.000	A
LSG1	55341	genome.wustl.edu	37	3	194387183	194387183	+	Silent	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr3:194387183C>T	ENST00000265245.5	-	3	659	c.345G>A	c.(343-345)agG>agA	p.R115R	AC046143.1_ENST00000408791.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	115					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CAGCTCACCTCCTCGGTATAC	0.413																																						dbGAP											0													110.0	107.0	108.0					3																	194387183		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.345G>A	3.37:g.194387183C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.R115	ENST00000265245.5	37	c.345	CCDS33922.1	3																																																																																			LSG1	-	NULL	ENSG00000041802		0.413	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	248	0.00	0	C	NM_018385		194387183	194387183	-1	no_errors	ENST00000265245	ensembl	human	known	69_37n	silent	57	12.31	8	SNP	0.879	T
MTHFD1	4522	genome.wustl.edu	37	14	64898264	64898264	+	Silent	SNP	C	C	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr14:64898264C>A	ENST00000545908.1	+	14	1723	c.1494C>A	c.(1492-1494)ctC>ctA	p.L498L	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.L442L			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	442	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ATCTCCACCTCACAGGTGACA	0.443																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	dbGAP											0													91.0	76.0	81.0					14																	64898264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1494C>A	14.37:g.64898264C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L498	ENST00000545908.1	37	c.1494		14																																																																																			MTHFD1	-	pfam_Formate_THF_ligase	ENSG00000100714		0.443	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000412167.1	135	0.00	0	C			64898264	64898264	+1	no_errors	ENST00000216605	ensembl	human	known	69_37n	silent	56	26.32	20	SNP	1.000	A
MYH14	79784	genome.wustl.edu	37	19	50771580	50771580	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr19:50771580C>T	ENST00000596571.1	+	21	2866	c.2866C>T	c.(2866-2868)Cgt>Tgt	p.R956C	MYH14_ENST00000601313.1_Missense_Mutation_p.R997C|MYH14_ENST00000376970.2_Missense_Mutation_p.R989C|MYH14_ENST00000440075.2_Missense_Mutation_p.R997C|MYH14_ENST00000262269.8_Missense_Mutation_p.R997C|MYH14_ENST00000425460.1_Missense_Mutation_p.R964C|MYH14_ENST00000598205.1_Missense_Mutation_p.R964C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	956					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)		GGAGTGCAGCCGTCAAATGCA	0.652																																						dbGAP											0													34.0	46.0	42.0					19																	50771580		2162	4247	6409	-	-	-	SO:0001583	missense	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.2866C>T	19.37:g.50771580C>T	ENSP00000472819:p.Arg956Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	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.R997C	ENST00000596571.1	37	c.2989	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764490	0.69878	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	3.9	2.77	0.32553	.	.	.	.	.	D	0.88012	0.6323	N	0.19112	0.55	0.42906	D	0.99424	D;D;D	0.71674	0.998;0.992;0.995	D;P;P	0.64410	0.925;0.756;0.876	D	0.88431	0.3035	9	0.72032	D	0.01	.	11.3408	0.49531	0.0:0.8136:0.1864:0.0	.	997;956;964	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	956;997;989;964;956;997	ENSP00000406273:R997C;ENSP00000366169:R989C;ENSP00000407879:R964C;ENSP00000262269:R997C	ENSP00000262269:R997C	R	+	1	0	MYH14	55463392	0.139000	0.22563	1.000000	0.80357	0.687000	0.40016	2.211000	0.42825	2.180000	0.69256	0.561000	0.74099	CGT	MYH14	-	NULL	ENSG00000105357		0.652	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	44	0.00	0	C	NM_024729		50771580	50771580	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	0.989	T
NEB	4703	genome.wustl.edu	37	2	152410473	152410473	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr2:152410473T>C	ENST00000172853.10	-	98	14539	c.14392A>G	c.(14392-14394)Atg>Gtg	p.M4798V	NEB_ENST00000604864.1_Missense_Mutation_p.M6499V|NEB_ENST00000409198.1_Missense_Mutation_p.M4798V|NEB_ENST00000397345.3_Missense_Mutation_p.M6499V|NEB_ENST00000427231.2_Missense_Mutation_p.M6499V|NEB_ENST00000603639.1_Missense_Mutation_p.M6499V			P20929	NEBU_HUMAN	nebulin	4798					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAGTAACCATCTCTACCATG	0.453																																						dbGAP											0													190.0	184.0	186.0					2																	152410473		1953	4149	6102	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14392A>G	2.37:g.152410473T>C	ENSP00000172853:p.Met4798Val	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.M6499V	ENST00000172853.10	37	c.19495		2	.	.	.	.	.	.	.	.	.	.	T	8.696	0.908554	0.17833	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.48	1.35	0.21983	.	0.138639	0.64402	D	0.000005	T	0.23171	0.0560	N	0.11427	0.14	0.80722	D	1	B;P	0.39071	0.0;0.658	B;P	0.50270	0.002;0.636	T	0.03981	-1.0987	10	0.27082	T	0.32	.	9.3776	0.38292	0.1068:0.0:0.2454:0.6478	.	4798;1229	P20929;Q14215	NEBU_HUMAN;.	V	4798;6499;6499;847;1229;4798	ENSP00000386259:M4798V;ENSP00000380505:M6499V;ENSP00000416578:M6499V;ENSP00000410961:M1229V;ENSP00000172853:M4798V	ENSP00000172853:M4798V	M	-	1	0	NEB	152118719	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.798000	0.55522	0.349000	0.23975	-1.410000	0.01125	ATG	NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.453	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		174	0.00	0	T	NM_004543		152410473	152410473	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	66	30.53	29	SNP	1.000	C
NTNG2	84628	genome.wustl.edu	37	9	135073714	135073714	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr9:135073714G>A	ENST00000393229.3	+	3	1351	c.575G>A	c.(574-576)cGc>cAc	p.R192H	NTNG2_ENST00000372179.3_Missense_Mutation_p.R192H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R192H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R192H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	192	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGCGCGCACCGCGTGCTCTGC	0.682																																						dbGAP											0													34.0	28.0	30.0					9																	135073714		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.575G>A	9.37:g.135073714G>A	ENSP00000376921:p.Arg192His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.R192H	ENST00000393229.3	37	c.575	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.357203	0.95854	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	L	0.51422	1.61	0.54753	D	0.999985	D	0.89917	1.0	D	0.78314	0.991	D	0.84875	0.0827	10	0.72032	D	0.01	.	17.7699	0.88489	0.0:0.0:1.0:0.0	.	192	Q96CW9	NTNG2_HUMAN	H	192	ENSP00000376921:R192H;ENSP00000376920:R192H;ENSP00000353888:R192H;ENSP00000361252:R192H	ENSP00000353888:R192H	R	+	2	0	NTNG2	134063535	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.062000	0.89475	2.417000	0.82017	0.561000	0.74099	CGC	NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000196358		0.682	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	9	0.00	0	G	NM_032536		135073714	135073714	+1	no_errors	ENST00000360670	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	A
NXN	64359	genome.wustl.edu	37	17	722712	722712	+	Silent	SNP	G	G	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr17:722712G>T	ENST00000336868.3	-	5	878	c.787C>A	c.(787-789)Cgg>Agg	p.R263R	NXN_ENST00000575801.1_Silent_p.R155R|NXN_ENST00000538650.1_Silent_p.R14R|NXN_ENST00000537628.2_Silent_p.R14R	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	263	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AGGCGCGACCGCCGGGCCTCA	0.632																																						dbGAP											0													59.0	59.0	59.0					17																	722712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.787C>A	17.37:g.722712G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A117E	ENST00000336868.3	37	c.350	CCDS10998.1	17																																																																																			NXN	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000167693		0.632	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	40	0.00	0	G			722712	722712	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571684	ensembl	human	putative	69_37n	missense	20	54.55	24	SNP	1.000	T
PARD6A	50855	genome.wustl.edu	37	16	67695950	67695950	+	Silent	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr16:67695950C>T	ENST00000219255.3	+	3	521	c.441C>T	c.(439-441)gaC>gaT	p.D147D	ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000602551.1_Silent_p.D117D|PARD6A_ENST00000458121.2_Silent_p.D146D|ENKD1_ENST00000602409.1_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	147	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)	p.D147E(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGTCATAGACGTGGACCTAC	0.627																																						dbGAP											1	Substitution - Missense(1)	lung(1)											69.0	71.0	71.0					16																	67695950		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.441C>T	16.37:g.67695950C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14911|Q9NPJ7	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.D147	ENST00000219255.3	37	c.441	CCDS10843.1	16																																																																																			PARD6A	-	superfamily_PDZ	ENSG00000102981		0.627	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD6A	HGNC	protein_coding	OTTHUMT00000268863.2	87	0.00	0	C	NM_016948		67695950	67695950	+1	no_errors	ENST00000219255	ensembl	human	known	69_37n	silent	45	18.18	10	SNP	0.998	T
PC	5091	genome.wustl.edu	37	11	66631396	66631396	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr11:66631396C>T	ENST00000393958.2	-	11	1310	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	PC_ENST00000393960.1_Missense_Mutation_p.R406H|PC_ENST00000524491.1_Missense_Mutation_p.R366H|PC_ENST00000393955.2_Missense_Mutation_p.R406H|PC_ENST00000355677.3_Missense_Mutation_p.R406H	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	406	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATTATCCAGGCGGATGCCCAT	0.637																																						dbGAP											0													148.0	130.0	137.0					11																	66631396		2200	4295	6495	-	-	-	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1217G>A	11.37:g.66631396C>T	ENSP00000377530:p.Arg406His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.R406H	ENST00000393958.2	37	c.1217	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.166398	0.94768	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.3	5.3	0.74995	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.061359	0.64402	D	0.000007	D	0.97142	0.9066	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.98897	1.0775	10	0.87932	D	0	-24.1141	16.4271	0.83817	0.0:1.0:0.0:0.0	.	406	P11498	PYC_HUMAN	H	406;406;406;366;406	ENSP00000377527:R406H;ENSP00000377530:R406H;ENSP00000377532:R406H;ENSP00000434192:R366H;ENSP00000347900:R406H	ENSP00000347900:R406H	R	-	2	0	PC	66387972	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.859000	0.75467	2.487000	0.83934	0.555000	0.69702	CGC	PC	-	pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase	ENSG00000173599		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	75	0.00	0	C	NM_001040716		66631396	66631396	-1	no_errors	ENST00000393958	ensembl	human	known	69_37n	missense	92	29.55	39	SNP	1.000	T
PCBP2	5094	genome.wustl.edu	37	12	53849274	53849274	+	Silent	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr12:53849274G>A	ENST00000439930.3	+	3	145	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PCBP2_ENST00000546463.1_Silent_p.E41E|PCBP2_ENST00000359462.5_Silent_p.E41E|PCBP2_ENST00000541275.1_Silent_p.E41E|PCBP2_ENST00000552819.1_Silent_p.E41E|PCBP2_ENST00000437231.1_Silent_p.E41E|PCBP2_ENST00000548933.1_Silent_p.E41E|PCBP2_ENST00000359282.5_Silent_p.E41E|PCBP2_ENST00000549863.1_Silent_p.E41E|PCBP2_ENST00000455667.3_Silent_p.E41E|PCBP2_ENST00000447282.1_Silent_p.E41E|PCBP2_ENST00000603815.1_Silent_p.E41E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Silent_p.E41E			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	41	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGATGCGCGAGGAGGTAAGTT	0.343																																						dbGAP											0													97.0	96.0	96.0					12																	53849274		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.123G>A	12.37:g.53849274G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G22R	ENST00000439930.3	37	c.64	CCDS44901.1	12																																																																																			PCBP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000197111		0.343	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	HGNC	protein_coding	OTTHUMT00000407545.2	272	0.00	0	G	NM_005016		53849274	53849274	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000562264	ensembl	human	novel	69_37n	missense	67	32.32	32	SNP	0.980	A
PTPRM	5797	genome.wustl.edu	37	18	8376551	8376551	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr18:8376551G>A	ENST00000332175.8	+	24	4416	c.3379G>A	c.(3379-3381)Gtc>Atc	p.V1127I	PTPRM_ENST00000580170.1_Missense_Mutation_p.V1140I|PTPRM_ENST00000400053.4_Missense_Mutation_p.V1065I|PTPRM_ENST00000444013.1_Missense_Mutation_p.V914I|PTPRM_ENST00000400060.4_Missense_Mutation_p.V1141I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1127	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTACAACTGCGTCAGGGAGCT	0.567																																						dbGAP											0													139.0	113.0	122.0					18																	8376551		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3379G>A	18.37:g.8376551G>A	ENSP00000331418:p.Val1127Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V1141I	ENST00000332175.8	37	c.3421	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.611585	0.96637	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.88	5.88	0.94601	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	L	0.47078	1.49	0.80722	D	1	P;D;D	0.67145	0.72;0.996;0.984	B;D;D	0.70716	0.184;0.97;0.925	D	0.91759	0.5418	10	0.72032	D	0.01	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	914;1140;1127	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	I	1127;1141;1065;914	ENSP00000331418:V1127I;ENSP00000382933:V1141I;ENSP00000382927:V1065I;ENSP00000387608:V914I	ENSP00000331418:V1127I	V	+	1	0	PTPRM	8366551	1.000000	0.71417	0.826000	0.32828	0.984000	0.73092	9.869000	0.99810	2.789000	0.95967	0.591000	0.81541	GTC	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000173482		0.567	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	76	0.00	0	G			8376551	8376551	+1	no_errors	ENST00000400060	ensembl	human	known	69_37n	missense	44	32.31	21	SNP	1.000	A
RARB	5915	genome.wustl.edu	37	3	25542765	25542765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr3:25542765C>A	ENST00000404969.1	+	3	420	c.420C>A	c.(418-420)tgC>tgA	p.C140*	RARB_ENST00000330688.4_Nonsense_Mutation_p.C133*|RARB_ENST00000437042.2_Nonsense_Mutation_p.C21*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.C21*			P10826	RARB_HUMAN	retinoic acid receptor, beta	140					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGAATCGATGCCAATACTGTC	0.393																																						dbGAP											0													108.0	108.0	108.0					3																	25542765		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.420C>A	3.37:g.25542765C>A	ENSP00000385865:p.Cys140*	Somatic		WXS	Illumina GAIIx	Phase_IV	P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.C140*	ENST00000404969.1	37	c.420		3	.	.	.	.	.	.	.	.	.	.	C	40	8.178584	0.98691	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	4.83	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.991	0.58618	0.0:0.9212:0.0:0.0788	.	.	.	.	X	140;140;140;21;133;21	.	ENSP00000332296:C133X	C	+	3	2	RARB	25517769	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.440000	0.44855	1.018000	0.39521	-0.142000	0.14014	TGC	RARB	-	pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000077092		0.393	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		200	0.00	0	C	NM_000965, NM_016152		25542765	25542765	+1	no_errors	ENST00000404969	ensembl	human	known	69_37n	nonsense	64	19.75	16	SNP	1.000	A
RREB1	6239	genome.wustl.edu	37	6	7211836	7211836	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr6:7211836G>A	ENST00000349384.6	+	8	915	c.601G>A	c.(601-603)Gag>Aag	p.E201K	RREB1_ENST00000334984.6_Missense_Mutation_p.E201K|RREB1_ENST00000379938.2_Missense_Mutation_p.E201K|RREB1_ENST00000379933.3_Missense_Mutation_p.E201K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	201					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGTGACTTGGAGAAGAAAGC	0.478																																						dbGAP											0													129.0	120.0	123.0					6																	7211836		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.601G>A	6.37:g.7211836G>A	ENSP00000305560:p.Glu201Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E201K	ENST00000349384.6	37	c.601	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976483	0.74360	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.10668	2.98;2.93;2.98;2.85;2.97	6.06	6.06	0.98353	.	0.609386	0.15463	N	0.261001	T	0.03695	0.0105	L	0.36672	1.1	0.19945	N	0.999949	P;P;P	0.38504	0.554;0.561;0.634	B;B;B	0.39217	0.294;0.204;0.234	T	0.35126	-0.9801	10	0.06891	T	0.86	-30.1401	14.9404	0.70989	0.0:0.1429:0.8571:0.0	.	201;201;201	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	K	201	ENSP00000369265:E201K;ENSP00000369270:E201K;ENSP00000305560:E201K;ENSP00000335574:E201K;ENSP00000419511:E201K	ENSP00000335574:E201K	E	+	1	0	RREB1	7156835	0.996000	0.38824	0.142000	0.22268	0.943000	0.58893	5.032000	0.64140	2.882000	0.98803	0.655000	0.94253	GAG	RREB1	-	NULL	ENSG00000124782		0.478	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	149	0.67	1	G			7211836	7211836	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	missense	46	34.29	24	SNP	0.498	A
REV3L	5980	genome.wustl.edu	37	6	111696389	111696389	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr6:111696389T>C	ENST00000358835.3	-	14	3623	c.3169A>G	c.(3169-3171)Aaa>Gaa	p.K1057E	REV3L_ENST00000435970.1_Missense_Mutation_p.K979E|REV3L_ENST00000368805.1_Missense_Mutation_p.K1057E|REV3L_ENST00000368802.3_Missense_Mutation_p.K1057E			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1057					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCAGTTTTTTTCTTAGCAGAT	0.363								DNA polymerases (catalytic subunits)																														dbGAP											0													105.0	105.0	105.0					6																	111696389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3169A>G	6.37:g.111696389T>C	ENSP00000351697:p.Lys1057Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.K1057E	ENST00000358835.3	37	c.3169	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647702	0.47258	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01854	4.7;4.7;4.7;4.6	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.058169	0.64402	D	0.000002	T	0.02267	0.0070	L	0.53249	1.67	0.39641	D	0.970323	P	0.45348	0.856	B	0.43754	0.43	T	0.52601	-0.8554	10	0.72032	D	0.01	.	15.6572	0.77150	0.0:0.0:0.0:1.0	.	1057	O60673	DPOLZ_HUMAN	E	1057;1057;1057;979	ENSP00000357792:K1057E;ENSP00000357795:K1057E;ENSP00000351697:K1057E;ENSP00000402003:K979E	ENSP00000351697:K1057E	K	-	1	0	REV3L	111803082	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.786000	0.69006	2.092000	0.63282	0.482000	0.46254	AAA	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.363	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	352	0.00	0	T	NM_002912		111696389	111696389	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	88	29.60	37	SNP	1.000	C
SHANK2	22941	genome.wustl.edu	37	11	70333654	70333654	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr11:70333654C>A	ENST00000423696.2	-	15	1643	c.1607G>T	c.(1606-1608)aGa>aTa	p.R536I	SHANK2_ENST00000449833.2_Missense_Mutation_p.R320I|SHANK2_ENST00000338508.4_Missense_Mutation_p.R916I|SHANK2_ENST00000409161.1_Missense_Mutation_p.R319I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	536					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCGTAGACTCTTGGAGTTGG	0.612																																						dbGAP											0													62.0	60.0	61.0					11																	70333654		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1607G>T	11.37:g.70333654C>A	ENSP00000394536:p.Arg536Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R916I	ENST00000423696.2	37	c.2747		11	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162324	0.78226	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.49432	2.05;2.05;2.75;0.78;2.18;2.18	4.7	4.7	0.59300	.	0.049574	0.85682	D	0.000000	T	0.69940	0.3167	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.994	D;D;D	0.72338	0.947;0.977;0.947	T	0.75682	-0.3233	10	0.87932	D	0	.	17.6668	0.88205	0.0:1.0:0.0:0.0	.	536;915;320	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	I	320;319;194;916;536;554;539	ENSP00000399423:R320I;ENSP00000386491:R319I;ENSP00000402944:R194I;ENSP00000345193:R916I;ENSP00000394536:R536I;ENSP00000294018:R539I	ENSP00000294018:R539I	R	-	2	0	SHANK2	70011302	0.990000	0.36364	0.755000	0.31263	0.889000	0.51656	5.353000	0.66034	2.168000	0.68352	0.655000	0.94253	AGA	SHANK2	-	NULL	ENSG00000162105		0.612	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		104	0.00	0	C	NM_012309		70333654	70333654	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	missense	121	29.07	50	SNP	0.898	A
SHANK3	85358	genome.wustl.edu	37	22	51143180	51143180	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr22:51143180G>A	ENST00000414786.2	+	15	1971	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	SHANK3_ENST00000262795.3_Missense_Mutation_p.E612K|SHANK3_ENST00000445220.2_Missense_Mutation_p.E597K			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	596	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GACCCCCATCGAGGAGTTCAC	0.677																																						dbGAP											0													21.0	27.0	25.0					22																	51143180		2111	4226	6337	-	-	-	SO:0001583	missense	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1744G>A	22.37:g.51143180G>A	ENSP00000464552:p.Glu582Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E612K	ENST00000414786.2	37	c.1834		22	.	.	.	.	.	.	.	.	.	.	G	35	5.521183	0.96416	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.39997	1.07;1.05	5.37	5.37	0.77165	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.50735	0.1633	N	0.19112	0.55	0.38925	D	0.957828	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.975	T	0.58244	-0.7670	9	0.72032	D	0.01	.	16.599	0.84804	0.0:0.0:1.0:0.0	.	597;612	Q9BYB0;F2Z3L0	SHAN3_HUMAN;.	K	612;597	ENSP00000442518:E612K;ENSP00000446078:E597K	ENSP00000442518:E612K	E	+	1	0	SHANK3	49490046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.421000	0.97455	2.529000	0.85273	0.563000	0.77884	GAG	SHANK3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000251322		0.677	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	41	0.00	0	G	NM_001080420		51143180	51143180	+1	no_errors	ENST00000262795	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	A
SLC22A3	6581	genome.wustl.edu	37	6	160864753	160864753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr6:160864753G>T	ENST00000275300.2	+	9	1641	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*	SLC22A3_ENST00000392145.1_Nonsense_Mutation_p.E498*	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	497					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CGTGTGGCTAGAACTACCTCT	0.403																																						dbGAP											0													103.0	94.0	97.0					6																	160864753		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1489G>T	6.37:g.160864753G>T	ENSP00000275300:p.Glu497*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYN6|Q9UP02	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E498*	ENST00000275300.2	37	c.1492	CCDS5277.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.602912	0.97697	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	.	.	.	5.46	4.57	0.56435	.	0.136173	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.1273	0.65230	0.0:0.0:0.8498:0.1502	.	.	.	.	X	497;498	.	ENSP00000275300:E497X	E	+	1	0	SLC22A3	160784743	1.000000	0.71417	0.831000	0.32960	0.988000	0.76386	8.850000	0.92190	1.389000	0.46526	0.462000	0.41574	GAA	SLC22A3	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000146477		0.403	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC22A3	HGNC	protein_coding	OTTHUMT00000042953.1	261	0.00	0	G	NM_021977		160864753	160864753	+1	no_errors	ENST00000392145	ensembl	human	known	69_37n	nonsense	55	37.50	33	SNP	0.999	T
SLMAP	7871	genome.wustl.edu	37	3	57908744	57908745	+	In_Frame_Ins	INS	-	-	AAT			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr3:57908744_57908745insAAT	ENST00000428312.1	+	21	2482_2483	c.2388_2389insAAT	c.(2389-2391)aat>AATaat	p.797_797N>NN	SLMAP_ENST00000442599.2_In_Frame_Ins_p.265_265N>NN|SLMAP_ENST00000295951.3_In_Frame_Ins_p.780_780N>NN|SLMAP_ENST00000449503.2_In_Frame_Ins_p.759_759N>NN|SLMAP_ENST00000494088.1_In_Frame_Ins_p.290_290N>NN|SLMAP_ENST00000495364.1_In_Frame_Ins_p.331_331N>NN|SLMAP_ENST00000295952.3_In_Frame_Ins_p.780_780N>NN			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	797					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGAGAAAGGAAATAATGTAAG	0.381																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.2392_2394dupAAT	3.37:g.57908748_57908750dupAAT	ENSP00000398661:p.Asn798dup	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	In_Frame_Ins	INS	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.798in_frame_insN	ENST00000428312.1	37	c.2388_2389		3																																																																																			SLMAP	-	NULL	ENSG00000163681		0.381	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	83	0.00	0	-	NM_007159		57908744	57908745	+1	no_errors	ENST00000428312	ensembl	human	known	69_37n	in_frame_ins	33	10.81	4	INS	1.000:1.000	AAT
SMTNL2	342527	genome.wustl.edu	37	17	4496467	4496467	+	Splice_Site	SNP	G	G	T	rs202160684	byFrequency	TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr17:4496467G>T	ENST00000389313.4	+	3	797		c.e3+1		SMTNL2_ENST00000338859.4_Splice_Site	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2									p.?(17)		breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGTCCTAGCGGTATGAGCTGG	0.657																																						dbGAP											17	Unknown(17)	endometrium(16)|breast(1)											31.0	33.0	33.0					17																	4496467		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.730+1G>T	17.37:g.4496467G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVK6	Splice_Site	SNP	-	e3+1	ENST00000389313.4	37	c.730+1	CCDS45583.1	17	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990579	0.35131	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5337	0.67944	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMTNL2	4443216	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	3.181000	0.50903	2.722000	0.93159	0.655000	0.94253	.	SMTNL2	-	-	ENSG00000188176		0.657	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMTNL2	HGNC	protein_coding	OTTHUMT00000439129.1	19	0.00	0	G	NM_198501	Intron	4496467	4496467	+1	no_errors	ENST00000389313	ensembl	human	known	69_37n	splice_site	29	21.62	8	SNP	0.999	T
SP100	6672	genome.wustl.edu	37	2	231334496	231334496	+	Intron	DEL	A	A	-	rs372197214		TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr2:231334496delA	ENST00000264052.5	+	15	1700				SP100_ENST00000340126.4_Intron|SP100_ENST00000427101.2_Intron|SP100_ENST00000409824.1_Intron|SP100_ENST00000341950.4_Frame_Shift_Del_p.L450fs|SP100_ENST00000409341.1_Intron|SP100_ENST00000409897.1_Intron|SP100_ENST00000409112.1_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCCAAAGTTAAAAAAAAAAA	0.363																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1346-234A>-	2.37:g.231334496delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Del	DEL	pfam_Sp100	p.K453fs	ENST00000264052.5	37	c.1350	CCDS2477.1	2																																																																																			SP100	-	NULL	ENSG00000067066		0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	28	0.00	0	A	NM_003113		231334496	231334496	+1	no_errors	ENST00000341950	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.007	-
STAB1	23166	genome.wustl.edu	37	3	52552806	52552806	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr3:52552806G>A	ENST00000321725.6	+	48	5031	c.4955G>A	c.(4954-4956)cGg>cAg	p.R1652Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1652	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCTGTCGGCGGCTGCGGAGC	0.692																																						dbGAP											0													30.0	35.0	33.0					3																	52552806		2202	4297	6499	-	-	-	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4955G>A	3.37:g.52552806G>A	ENSP00000312946:p.Arg1652Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1652Q	ENST00000321725.6	37	c.4955	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	2.094	-0.407608	0.04832	.	.	ENSG00000010327	ENST00000321725	D	0.90444	-2.67	5.26	0.934	0.19477	FAS1 domain (5);	1.002790	0.08033	N	0.993918	T	0.78641	0.4315	N	0.13371	0.34	0.21386	N	0.9997	B	0.14012	0.009	B	0.08055	0.003	T	0.61608	-0.7028	10	0.02654	T	1	.	8.6583	0.34077	0.6991:0.0:0.3009:0.0	.	1652	Q9NY15	STAB1_HUMAN	Q	1652	ENSP00000312946:R1652Q	ENSP00000312946:R1652Q	R	+	2	0	STAB1	52527846	0.005000	0.15991	1.000000	0.80357	0.100000	0.18952	0.360000	0.20250	0.267000	0.21916	-0.345000	0.07892	CGG	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000010327		0.692	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	22	0.00	0	G	NM_015136		52552806	52552806	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	0.957	A
TDRD5	163589	genome.wustl.edu	37	1	179604942	179604942	+	Silent	SNP	C	C	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr1:179604942C>A	ENST00000367614.1	+	9	1799	c.1440C>A	c.(1438-1440)atC>atA	p.I480I	TDRD5_ENST00000444136.1_Silent_p.I480I|TDRD5_ENST00000294848.8_Silent_p.I480I	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	480					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGAGTATATCATCTCTCCTA	0.453																																						dbGAP											0													108.0	102.0	104.0					1																	179604942		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1440C>A	1.37:g.179604942C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.I480	ENST00000367614.1	37	c.1440	CCDS1332.1	1																																																																																			TDRD5	-	pfam_Tudor	ENSG00000162782		0.453	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	153	0.00	0	C	NM_173533		179604942	179604942	+1	no_errors	ENST00000444136	ensembl	human	known	69_37n	silent	58	12.12	8	SNP	0.721	A
TEX15	56154	genome.wustl.edu	37	8	30700783	30700783	+	Silent	SNP	T	T	C	rs560728764		TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr8:30700783T>C	ENST00000256246.2	-	1	5825	c.5751A>G	c.(5749-5751)ctA>ctG	p.L1917L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1917					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCACTCTGAGTAGCCTTTCTT	0.348																																						dbGAP											0													117.0	110.0	112.0					8																	30700783		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5751A>G	8.37:g.30700783T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L1917	ENST00000256246.2	37	c.5751	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	332	0.00	0	T			30700783	30700783	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	silent	53	48.04	49	SNP	0.002	C
TP53	7157	genome.wustl.edu	37	17	7576924	7576925	+	Splice_Site	DEL	GT	GT	-			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr17:7576924_7576925delGT	ENST00000269305.4	-	9	1110_1111	c.921_922delAC	c.(919-924)gcactg>gctg	p.L308fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site_p.L308fs|TP53_ENST00000359597.4_Splice_Site_p.L308fs|TP53_ENST00000455263.2_Splice_Site_p.L308fs|TP53_ENST00000420246.2_Splice_Site_p.L308fs|TP53_ENST00000413465.2_Intron	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	308	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		L -> M (in sporadic cancers; somatic mutation).|L -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(4)|p.L308M(2)|p.L308fs*28(2)|p.A307fs*34(1)|p.L308V(1)|p.L308fs*31(1)|p.A307A(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)	TTGTTGGGCAGTGCTAGGAAAG	0.49		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"""	20	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(4)|Substitution - Missense(3)|Substitution - coding silent(1)	upper_aerodigestive_tract(6)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)|lung(1)|breast(1)|ovary(1)|liver(1)																																								-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.920-1AC>-	17.37:g.7576924_7576925delGT		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	Frame_Shift_Del	DEL	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.L308fs	ENST00000269305.4	37	c.922_921	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.490	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	139	0.00	0	GT	NM_000546	Frame_Shift_Del	7576924	7576925	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	58	51.97	66	DEL	0.955:0.952	-
TRAPPC10	7109	genome.wustl.edu	37	21	45475668	45475668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr21:45475668delT	ENST00000291574.4	+	5	747	c.572delT	c.(571-573)cttfs	p.L191fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Del_p.L191fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	191					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACATTGCTTCTTATGTCTTTT	0.468																																						dbGAP											0													193.0	180.0	185.0					21																	45475668		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.572delT	21.37:g.45475668delT	ENSP00000291574:p.Leu191fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Del	DEL	NULL	p.M192fs	ENST00000291574.4	37	c.572	CCDS13704.1	21																																																																																			TRAPPC10	-	NULL	ENSG00000160218		0.468	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	189	0.00	0	T	NM_003274		45475668	45475668	+1	no_errors	ENST00000291574	ensembl	human	known	69_37n	frame_shift_del	91	14.68	16	DEL	1.000	-
UBXN11	91544	genome.wustl.edu	37	1	26608890	26608891	+	Frame_Shift_Del	DEL	CC	CC	-	rs376181141		TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr1:26608890_26608891delCC	ENST00000374222.1	-	16	1926_1927	c.1462_1463delGG	c.(1462-1464)ggtfs	p.G488fs	UBXN11_ENST00000374217.2_Frame_Shift_Del_p.G455fs|UBXN11_ENST00000374223.1_Frame_Shift_Del_p.G245fs|UBXN11_ENST00000374221.3_Frame_Shift_Del_p.G488fs|UBXN11_ENST00000314675.7_Frame_Shift_Del_p.G368fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.G455fs			Q5T124	UBX11_HUMAN	UBX domain protein 11	488	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggaccgggaccgggacaggga	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1462_1463delGG	1.37:g.26608890_26608891delCC	ENSP00000363339:p.Gly488fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Frame_Shift_Del	DEL	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.G488fs	ENST00000374222.1	37	c.1463_1462	CCDS41288.1	1																																																																																			UBXN11	-	NULL	ENSG00000158062		0.713	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	8	0.00	0	CC	NM_145345		26608890	26608891	-1	no_errors	ENST00000374221	ensembl	human	known	69_37n	frame_shift_del	8	30.77	4	DEL	0.001:0.001	-
WDR13	64743	genome.wustl.edu	37	X	48457035	48457035	+	Intron	DEL	C	C	-			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chrX:48457035delC	ENST00000218056.5	+	2	546				WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Intron	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCCTGCCGTACCCCCCCCCCC	0.602													|||unknown(HR)	1485	0.393377	0.2874	0.2752	3775	,	,		8560	0.3333		0.2763	False		,,,				2504	0.3067					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.42-70C>-	X.37:g.48457035delC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	RNA	DEL	-	NULL	ENST00000218056.5	37	NULL	CCDS14302.1	X																																																																																			WDR13	-	-	ENSG00000101940		0.602	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	12	0.00	0	C			48457035	48457035	+1	no_errors	ENST00000479279	ensembl	human	known	69_37n	rna	6	40.00	4	DEL	0.000	-
ZDBF2	57683	genome.wustl.edu	37	2	207174608	207174608	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr2:207174608G>T	ENST00000374423.3	+	5	5742	c.5356G>T	c.(5356-5358)Gat>Tat	p.D1786Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1786							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGAACCATGATTCCCAGTC	0.413																																						dbGAP											0													62.0	63.0	62.0					2																	207174608		1859	4110	5969	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5356G>T	2.37:g.207174608G>T	ENSP00000363545:p.Asp1786Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.D1786Y	ENST00000374423.3	37	c.5356	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118584	0.37436	.	.	ENSG00000204186	ENST00000374423	T	0.47869	0.83	5.26	1.12	0.20585	.	.	.	.	.	T	0.32224	0.0822	L	0.36672	1.1	0.09310	N	1	B	0.29270	0.24	B	0.27608	0.081	T	0.32161	-0.9917	9	0.72032	D	0.01	.	2.574	0.04801	0.2405:0.1361:0.4986:0.1248	.	1786	Q9HCK1	ZDBF2_HUMAN	Y	1786	ENSP00000363545:D1786Y	ENSP00000363545:D1786Y	D	+	1	0	ZDBF2	206882853	0.013000	0.17824	0.001000	0.08648	0.011000	0.07611	1.005000	0.29834	0.335000	0.23614	0.650000	0.86243	GAT	ZDBF2	-	NULL	ENSG00000204186		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	68	0.00	0	G	NM_020923		207174608	207174608	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	32	39.62	21	SNP	0.000	T
ZNF695	57116	genome.wustl.edu	37	1	247151327	247151327	+	Missense_Mutation	SNP	C	C	A	rs567999310		TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr1:247151327C>A	ENST00000339986.7	-	4	637	c.490G>T	c.(490-492)Ggt>Tgt	p.G164C	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	164					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTACTAAAACCTTTCACACAT	0.358																																						dbGAP											0													149.0	144.0	145.0					1																	247151327		1888	4133	6021	-	-	-	SO:0001583	missense	0				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.490G>T	1.37:g.247151327C>A	ENSP00000341236:p.Gly164Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G164C	ENST00000339986.7	37	c.490	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920251	0.33908	.	.	ENSG00000197472	ENST00000339986	T	0.01647	4.71	0.459	0.459	0.16678	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01454	0.0047	L	0.34521	1.04	0.20196	N	0.999923	D	0.57899	0.981	B	0.37198	0.243	T	0.52675	-0.8544	9	0.87932	D	0	.	6.6488	0.22951	0.0:0.9998:0.0:2.0E-4	.	164	Q8IW36	ZN695_HUMAN	C	164	ENSP00000341236:G164C	ENSP00000341236:G164C	G	-	1	0	ZNF695	245217950	0.000000	0.05858	0.018000	0.16275	0.334000	0.28698	-1.637000	0.02015	0.479000	0.27511	0.195000	0.17529	GGT	ZNF695	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197472		0.358	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	188	0.00	0	C	NM_020394		247151327	247151327	-1	no_errors	ENST00000339986	ensembl	human	known	69_37n	missense	113	10.32	13	SNP	0.563	A
ZNFX1	57169	genome.wustl.edu	37	20	47865218	47865218	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A138-01A-11D-A10Y-09	TCGA-C8-A138-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f3474e56-8457-4f0b-8a2f-58fdd8f58607	6128514c-cc6c-4e40-9e59-55ba8f6f361c	g.chr20:47865218G>A	ENST00000396105.1	-	14	4589	c.4343C>T	c.(4342-4344)tCc>tTc	p.S1448F	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1448F	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1448							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTGTGGCAGGAGCCTGGGCA	0.552																																						dbGAP											0													44.0	44.0	44.0					20																	47865218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4343C>T	20.37:g.47865218G>A	ENSP00000379412:p.Ser1448Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.S1448F	ENST00000396105.1	37	c.4343	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928307	0.52759	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.57436	0.4;0.4	6.07	6.07	0.98685	.	0.318785	0.34853	N	0.003634	T	0.58793	0.2147	M	0.68593	2.085	0.33945	D	0.64372	P	0.39326	0.668	P	0.44394	0.448	T	0.71833	-0.4473	10	0.59425	D	0.04	-14.1237	14.0913	0.64993	0.0:0.0:0.8496:0.1504	.	1448	Q9P2E3	ZNFX1_HUMAN	F	1448	ENSP00000360817:S1448F;ENSP00000379412:S1448F	ENSP00000360817:S1448F	S	-	2	0	ZNFX1	47298625	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.503000	0.60407	2.884000	0.98904	0.655000	0.94253	TCC	ZNFX1	-	NULL	ENSG00000124201		0.552	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	33	0.00	0	G	NM_021035		47865218	47865218	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	missense	84	20.00	21	SNP	1.000	A
