#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
ADAMTS17	170691	genome.wustl.edu	37	15	100537592	100537592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr15:100537592G>A	ENST00000268070.4	-	19	2899	c.2794C>T	c.(2794-2796)Cag>Tag	p.Q932*		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	932	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q932*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCACCCACCTGTGACCACTCA	0.677																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											43.0	47.0	45.0					15																	100537592		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2794C>T	15.37:g.100537592G>A	ENSP00000268070:p.Gln932*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2I7G4|Q6ZN75	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q932*	ENST00000268070.4	37	c.2794	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	40	8.288956	0.98745	.	.	ENSG00000140470	ENST00000268070	.	.	.	4.85	1.32	0.21799	.	0.238823	0.31312	N	0.007876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.181	0.20472	0.0:0.23:0.3364:0.4336	.	.	.	.	X	932	.	ENSP00000268070:Q932X	Q	-	1	0	ADAMTS17	98355115	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.895000	0.39778	0.382000	0.24878	0.563000	0.77884	CAG	ADAMTS17	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000140470		0.677	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	36	0.00	0	G	NM_139057		100537592	100537592	-1	no_errors	ENST00000268070	ensembl	human	known	69_37n	nonsense	21	19.23	5	SNP	1.000	A
AFF2	2334	genome.wustl.edu	37	X	148037437	148037437	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chrX:148037437T>C	ENST00000370460.2	+	11	2341	c.1862T>C	c.(1861-1863)gTg>gCg	p.V621A	AFF2_ENST00000342251.3_Missense_Mutation_p.V588A|AFF2_ENST00000370457.5_Missense_Mutation_p.V588A|AFF2_ENST00000286437.5_Missense_Mutation_p.V262A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	621					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.V621A(2)|p.V262A(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGAGACAGTGTCTCAAAGG	0.453																																						dbGAP											3	Substitution - Missense(3)	breast(3)											88.0	94.0	92.0					X																	148037437		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1862T>C	X.37:g.148037437T>C	ENSP00000359489:p.Val621Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V621A	ENST00000370460.2	37	c.1862	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.325996	0.01309	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.5	1.73	0.24493	.	1.223500	0.05650	N	0.584981	T	0.34279	0.0892	N	0.02202	-0.64	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001	T	0.18745	-1.0327	10	0.21014	T	0.42	.	5.6175	0.17440	0.0:0.4891:0.1266:0.3843	.	262;586;588;582;611;621	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	A	621;588;588;262	ENSP00000359489:V621A;ENSP00000359486:V588A;ENSP00000345459:V588A;ENSP00000286437:V262A	ENSP00000286437:V262A	V	+	2	0	AFF2	147845137	0.001000	0.12720	0.012000	0.15200	0.161000	0.22273	0.043000	0.13971	-0.074000	0.12820	-0.283000	0.09986	GTG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	161	0.00	0	T	NM_002025		148037437	148037437	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	92	11.54	12	SNP	0.009	C
ALKBH5	54890	genome.wustl.edu	37	17	18110148	18110148	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr17:18110148C>T	ENST00000399138.4	+	3	876	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	291					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)	p.R291W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					AGATGCACCCCGGTTGGAAAC	0.557																																					Ovarian(166;154 1953 40235 46283 46309)	dbGAP											1	Substitution - Missense(1)	breast(1)											194.0	204.0	201.0					17																	18110148		1940	4137	6077	-	-	-	SO:0001583	missense	0			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.871C>T	17.37:g.18110148C>T	ENSP00000382091:p.Arg291Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	NULL	p.R291W	ENST00000399138.4	37	c.871	CCDS42272.1	17	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766524	0.90020	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77664	-0.2503	9	0.87932	D	0	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	291	Q6P6C2-2	.	W	291;280;291	.	ENSP00000261650:R291W	R	+	1	2	ALKBH5	18050873	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.865000	0.62998	2.618000	0.88619	0.655000	0.94253	CGG	ALKBH5	-	NULL	ENSG00000091542		0.557	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	153	0.00	0	C	NM_017758		18110148	18110148	+1	no_errors	ENST00000399138	ensembl	human	known	69_37n	missense	9	71.88	23	SNP	1.000	T
ARHGAP20	57569	genome.wustl.edu	37	11	110451528	110451528	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:110451528C>A	ENST00000260283.4	-	16	2426	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.K678N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.K688N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.K678N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.K691N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.K688N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.K257N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	714					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K714N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGTAGGAAAGCTTTGAATCCA	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											63.0	64.0	64.0					11																	110451528		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2142G>T	11.37:g.110451528C>A	ENSP00000260283:p.Lys714Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.K714N	ENST00000260283.4	37	c.2142	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946525	0.53186	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.12147	2.72;2.72;2.71;2.72;2.73;2.72;2.73	5.5	5.5	0.81552	.	0.309294	0.31685	N	0.007237	T	0.16981	0.0408	M	0.74258	2.255	0.09310	N	0.99999	P;B;B	0.41102	0.738;0.142;0.222	B;B;B	0.37650	0.255;0.055;0.117	T	0.29027	-1.0025	10	0.41790	T	0.15	.	9.5874	0.39526	0.1674:0.6907:0.1419:0.0	.	688;714;691	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	714;688;257;691;678;688;678	ENSP00000260283:K714N;ENSP00000349660:K688N;ENSP00000437905:K257N;ENSP00000432076:K691N;ENSP00000436319:K678N;ENSP00000436522:K688N;ENSP00000431399:K678N	ENSP00000260283:K714N	K	-	3	2	ARHGAP20	109956738	0.208000	0.23494	0.980000	0.43619	0.973000	0.67179	-0.033000	0.12246	2.599000	0.87857	0.655000	0.94253	AAG	ARHGAP20	-	NULL	ENSG00000137727		0.483	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	80	0.00	0	C	NM_020809		110451528	110451528	-1	no_errors	ENST00000260283	ensembl	human	known	69_37n	missense	20	55.56	25	SNP	0.369	A
C1GALT1C1	29071	genome.wustl.edu	37	X	119760251	119760251	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chrX:119760251C>A	ENST00000304661.5	-	2	1009	c.771G>T	c.(769-771)gaG>gaT	p.E257D	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.E257D	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	257					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E257D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AAGTCATTGCCTCTTTAATAG	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											176.0	159.0	164.0					X																	119760251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.771G>T	X.37:g.119760251C>A	ENSP00000304364:p.Glu257Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.E257D	ENST00000304661.5	37	c.771	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	C	6.123	0.390905	0.11581	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.42131	0.98;0.98	5.46	2.77	0.32553	.	0.100367	0.64402	D	0.000003	T	0.28234	0.0697	L	0.37561	1.115	0.45066	D	0.998084	B	0.26041	0.14	B	0.22880	0.042	T	0.05022	-1.0911	9	.	.	.	-10.3611	7.8231	0.29298	0.0:0.6682:0.0:0.3318	.	257	Q96EU7	C1GLC_HUMAN	D	257	ENSP00000304364:E257D;ENSP00000360363:E257D	.	E	-	3	2	C1GALT1C1	119644279	0.366000	0.25014	1.000000	0.80357	0.824000	0.46624	-0.331000	0.07914	0.220000	0.20860	-0.296000	0.09543	GAG	C1GALT1C1	-	NULL	ENSG00000171155		0.388	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	424	0.00	0	C	NM_152692		119760251	119760251	-1	no_errors	ENST00000304661	ensembl	human	known	69_37n	missense	181	12.14	25	SNP	0.998	A
C5orf42	65250	genome.wustl.edu	37	5	37170358	37170360	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	GTT	GTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr5:37170358_37170360delGTT	ENST00000508244.1	-	32	6338_6340	c.6245_6247delAAC	c.(6244-6249)caactt>ctt	p.Q2082del	C5orf42_ENST00000274258.7_In_Frame_Del_p.Q962del|C5orf42_ENST00000425232.2_In_Frame_Del_p.Q2082del			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2082						integral component of membrane (GO:0016021)		p.Q2082delQ(1)|p.Q962delQ(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCTGTACAAGTTGTTGTGTATC	0.394																																						dbGAP											2	Deletion - In frame(2)	breast(2)								84,4180		42,0,2090						4.6	0.1			160	229,8025		114,1,4012	no	coding	C5orf42	NM_023073.3		156,1,6102	A1A1,A1R,RR		2.7744,1.97,2.5004				313,12205				-	-	-	SO:0001651	inframe_deletion	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6245_6247delAAC	5.37:g.37170361_37170363delGTT	ENSP00000421690:p.Gln2082del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	In_Frame_Del	DEL	superfamily_Quino_amine_DH_bsu	p.Q2082in_frame_del	ENST00000508244.1	37	c.6247_6245	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.394	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	292	0.00	0	GTT	NM_023073		37170358	37170360	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	in_frame_del	173	22.32	50	DEL	0.000:0.000:0.004	-
C6orf118	168090	genome.wustl.edu	37	6	165715773	165715773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr6:165715773C>T	ENST00000230301.8	-	2	58	c.38G>A	c.(37-39)tGg>tAg	p.W13*	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	13										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCAGTGCTTCCACTTCAGGTA	0.522																																						dbGAP											0													46.0	50.0	49.0					6																	165715773		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.38G>A	6.37:g.165715773C>T	ENSP00000230301:p.Trp13*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC11	Nonsense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.W13*	ENST00000230301.8	37	c.38	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044107	0.36085	.	.	ENSG00000112539	ENST00000230301	.	.	.	4.5	3.55	0.40652	.	0.294451	0.25291	N	0.031737	.	.	.	.	.	.	0.33383	D	0.575136	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8102	0.34963	0.2417:0.7583:0.0:0.0	.	.	.	.	X	13	.	ENSP00000230301:W13X	W	-	2	0	C6orf118	165635763	0.748000	0.28294	0.333000	0.25482	0.004000	0.04260	1.712000	0.37940	2.315000	0.78130	0.655000	0.94253	TGG	C6orf118	-	NULL	ENSG00000112539		0.522	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	41	0.00	0	C	NM_144980		165715773	165715773	-1	no_errors	ENST00000230301	ensembl	human	known	69_37n	nonsense	8	46.67	7	SNP	0.123	T
CA1	759	genome.wustl.edu	37	8	86241930	86241930	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr8:86241930G>A	ENST00000523953.1	-	8	1703	c.657C>T	c.(655-657)gtC>gtT	p.V219V	CA1_ENST00000256119.5_Silent_p.V219V|CA1_ENST00000431316.1_Silent_p.V219V|CA1_ENST00000523022.1_Silent_p.V219V|CA1_ENST00000522389.1_Silent_p.V85V|CA1_ENST00000542576.1_Silent_p.V219V|CA1_ENST00000432364.2_Silent_p.V219V			P00915	CAH1_HUMAN	carbonic anhydrase I	219					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.V219V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GCTCTGAGCTGACACTGATGC	0.428																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											75.0	58.0	64.0					8																	86241930		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.657C>T	8.37:g.86241930G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q156*	ENST00000523953.1	37	c.466	CCDS6237.1	8	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566812	0.13560	.	.	ENSG00000133742	ENST00000521679	.	.	.	5.03	-0.203	0.13204	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3004	1.7128	0.02895	0.1461:0.2447:0.3434:0.2658	.	.	.	.	X	156	.	.	Q	-	1	0	CA1	86429182	0.992000	0.36948	0.038000	0.18304	0.825000	0.46686	1.092000	0.30927	-0.277000	0.09193	-0.868000	0.02995	CAG	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.428	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1	327	0.00	0	G	NM_001738		86241930	86241930	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521679	ensembl	human	novel	69_37n	nonsense	222	21.55	61	SNP	0.981	A
CELSR3	1951	genome.wustl.edu	37	3	48687978	48687978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr3:48687978delC	ENST00000164024.4	-	16	6687	c.6407delG	c.(6406-6408)ggtfs	p.G2136fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.G2136fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2136					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACCACACACCAGATCTCAG	0.607																																						dbGAP											0													64.0	57.0	59.0					3																	48687978		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6407delG	3.37:g.48687978delC	ENSP00000164024:p.Gly2136fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75092	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G2136fs	ENST00000164024.4	37	c.6407	CCDS2775.1	3																																																																																			CELSR3	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000008300		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	37	0.00	0	C	NM_001407		48687978	48687978	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
CLIP1	6249	genome.wustl.edu	37	12	122845563	122845563	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr12:122845563G>A	ENST00000540338.1	-	4	989	c.948C>T	c.(946-948)ctC>ctT	p.L316L	CLIP1_ENST00000361654.4_Silent_p.L316L|CLIP1_ENST00000537178.1_Silent_p.L316L|CLIP1_ENST00000302528.7_Silent_p.L316L|CLIP1_ENST00000358808.2_Silent_p.L316L|CLIP1_ENST00000545889.1_Silent_p.L17L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	316	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L316L(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCATGGAGCTGAGGGAAGAGG	0.622																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	63.0	64.0					12																	122845563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.948C>T	12.37:g.122845563G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.L316	ENST00000540338.1	37	c.948	CCDS58285.1	12																																																																																			CLIP1	-	superfamily_CAP-Gly_domain	ENSG00000130779		0.622	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	129	0.00	0	G	NM_002956		122845563	122845563	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	silent	54	28.95	22	SNP	1.000	A
CNTLN	54875	genome.wustl.edu	37	9	17226215	17226215	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr9:17226215C>T	ENST00000380647.3	+	3	548	c.464C>T	c.(463-465)tCt>tTt	p.S155F	CNTLN_ENST00000380641.4_Missense_Mutation_p.S155F|CNTLN_ENST00000425824.1_Missense_Mutation_p.S155F|CNTLN_ENST00000262360.5_Missense_Mutation_p.S155F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	155					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.S155F(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAACAGAAATCTGAAGCTAAA	0.254																																						dbGAP											1	Substitution - Missense(1)	breast(1)											20.0	21.0	21.0					9																	17226215		1771	4022	5793	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.464C>T	9.37:g.17226215C>T	ENSP00000370021:p.Ser155Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.S155F	ENST00000380647.3	37	c.464	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982386	0.74474	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.3	5.3	0.74995	.	.	.	.	.	T	0.26048	0.0635	L	0.44542	1.39	0.44048	D	0.996786	D;D;P	0.53151	0.958;0.958;0.925	P;P;P	0.54312	0.748;0.667;0.667	T	0.00595	-1.1653	9	0.87932	D	0	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	155;155;155	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	F	155	ENSP00000370021:S155F;ENSP00000392798:S155F;ENSP00000262360:S155F;ENSP00000370015:S155F	ENSP00000262360:S155F	S	+	2	0	CNTLN	17216215	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.911000	0.63328	2.508000	0.84585	0.650000	0.86243	TCT	CNTLN	-	NULL	ENSG00000044459		0.254	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	41	0.00	0	C	NM_017738		17226215	17226215	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	16	50.00	16	SNP	1.000	T
CR1	1378	genome.wustl.edu	37	1	207785317	207785317	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:207785317C>T	ENST00000367049.4	+	39	6506	c.6506C>T	c.(6505-6507)cCt>cTt	p.P2169L	CR1_ENST00000367053.1_Missense_Mutation_p.P1719L|CR1_ENST00000367052.1_Missense_Mutation_p.P1719L|CR1_ENST00000400960.2_Missense_Mutation_p.P1719L|CR1_ENST00000367051.1_Missense_Mutation_p.P1719L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1719					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.P2169L(1)|p.P1724L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCCAACTCCCTCATGGCCGT	0.483																																						dbGAP											2	Substitution - Missense(2)	breast(2)											281.0	269.0	273.0					1																	207785317		1936	4132	6068	-	-	-	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6506C>T	1.37:g.207785317C>T	ENSP00000356016:p.Pro2169Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P2169L	ENST00000367049.4	37	c.6506	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	1.980	-0.434258	0.04669	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	3.21	0.723	0.18231	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.45498	0.1345	N	0.25031	0.7	0.09310	N	1	B;B	0.24132	0.042;0.098	B;B	0.24701	0.021;0.055	T	0.26430	-1.0103	9	0.17832	T	0.49	.	4.8237	0.13405	0.0:0.5954:0.0:0.4046	.	1719;2169	P17927;E9PDY4	CR1_HUMAN;.	L	1719;1719;1719;1719;2169	ENSP00000356019:P1719L;ENSP00000356018:P1719L;ENSP00000356020:P1719L;ENSP00000383744:P1719L;ENSP00000356016:P2169L	ENSP00000356016:P2169L	P	+	2	0	CR1	205851940	0.001000	0.12720	0.069000	0.20011	0.546000	0.35178	0.028000	0.13644	0.158000	0.19367	0.511000	0.50034	CCT	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	337	0.00	0	C	NM_000573		207785317	207785317	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	128	25.15	43	SNP	0.107	T
CREB5	9586	genome.wustl.edu	37	7	28547244	28547244	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr7:28547244G>A	ENST00000357727.2	+	4	570	c.180G>A	c.(178-180)ccG>ccA	p.P60P	CREB5_ENST00000396299.2_Silent_p.P27P|CREB5_ENST00000409603.1_Silent_p.P27P|CREB5_ENST00000396300.2_Silent_p.P53P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	60					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P60P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATCAAACTCCGACCCCAACGA	0.517																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											111.0	119.0	116.0					7																	28547244		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.180G>A	7.37:g.28547244G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.P60	ENST00000357727.2	37	c.180	CCDS5417.1	7																																																																																			CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.517	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	115	0.00	0	G	NM_004904		28547244	28547244	+1	no_errors	ENST00000357727	ensembl	human	known	69_37n	silent	73	23.16	22	SNP	0.266	A
DDI2	84301	genome.wustl.edu	37	1	15978378	15978378	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:15978378G>T	ENST00000480945.1	+	8	1342	c.1171G>T	c.(1171-1173)Gca>Tca	p.A391S		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	391							aspartic-type endopeptidase activity (GO:0004190)	p.A391S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCAAAAATCAGCAGAGGATGC	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	62.0	63.0					1																	15978378		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1171G>T	1.37:g.15978378G>T	ENSP00000417748:p.Ala391Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup	p.A391S	ENST00000480945.1	37	c.1171	CCDS30607.1	1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838576	0.32513	.	.	ENSG00000197312	ENST00000480945	T	0.22134	1.97	5.27	5.27	0.74061	.	0.304453	0.26715	U	0.022873	T	0.16727	0.0402	N	0.22421	0.69	0.32289	N	0.56661	B	0.15719	0.014	B	0.17098	0.017	T	0.06881	-1.0802	10	0.18710	T	0.47	-2.4703	18.4942	0.90858	0.0:0.0:1.0:0.0	.	391	Q5TDH0	DDI2_HUMAN	S	391	ENSP00000417748:A391S	ENSP00000417748:A391S	A	+	1	0	DDI2	15850965	1.000000	0.71417	0.767000	0.31495	0.977000	0.68977	6.115000	0.71566	2.484000	0.83849	0.467000	0.42956	GCA	DDI2	-	NULL	ENSG00000197312		0.507	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	176	0.00	0	G	NM_032341		15978378	15978378	+1	no_errors	ENST00000480945	ensembl	human	known	69_37n	missense	39	54.65	47	SNP	0.996	T
DEFB113	245927	genome.wustl.edu	37	6	49936562	49936562	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr6:49936562C>G	ENST00000398718.1	-	2	76	c.77G>C	c.(76-78)aGa>aCa	p.R26T		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	26					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R26T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TGCAACTTCTCTTGTTTTTTT	0.358																																						dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	88.0	89.0					6																	49936562		1850	4093	5943	-	-	-	SO:0001583	missense	0			DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.77G>C	6.37:g.49936562C>G	ENSP00000381703:p.Arg26Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R26T	ENST00000398718.1	37	c.77	CCDS43472.1	6	.	.	.	.	.	.	.	.	.	.	C	3.602	-0.081429	0.07141	.	.	ENSG00000214642	ENST00000398718	.	.	.	4.15	-3.46	0.04767	.	.	.	.	.	T	0.07548	0.0190	.	.	.	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.33828	-0.9853	6	.	.	.	-6.793	6.1432	0.20271	0.0:0.2929:0.1463:0.5608	.	26	Q30KQ7	DB113_HUMAN	T	26	.	.	R	-	2	0	DEFB113	50044521	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-1.578000	0.02125	-1.023000	0.03342	-1.113000	0.02065	AGA	DEFB113	-	NULL	ENSG00000214642		0.358	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	HGNC	protein_coding	OTTHUMT00000359666.1	190	0.00	0	C			49936562	49936562	-1	no_errors	ENST00000398718	ensembl	human	known	69_37n	missense	106	39.43	69	SNP	0.000	G
BEND6	221336	genome.wustl.edu	37	6	56819269	56819270	+	5'Flank	INS	-	-	TC			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr6:56819269_56819270insTC	ENST00000370746.3	+	0	0				BEND6_ENST00000370745.1_5'Flank|DST_ENST00000370754.5_Frame_Shift_Ins_p.H39fs|BEND6_ENST00000370748.3_5'Flank|BEND6_ENST00000370750.2_5'Flank	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GGAGCTTGCGGTGCCAGCAGCA	0.574																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914		6.37:g.56819269_56819270insTC	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0W8|Q8N662|Q96NS6	Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.H39fs	ENST00000370746.3	37	c.117_116	CCDS43476.1	6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.574	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041032.4	48	0.00	0	-	NM_152731		56819269	56819270	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	frame_shift_ins	14	50.00	14	INS	1.000:1.000	TC
EAPP	55837	genome.wustl.edu	37	14	35002708	35002708	+	Silent	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr14:35002708C>T	ENST00000250454.3	-	3	375	c.294G>A	c.(292-294)ccG>ccA	p.P98P		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	98					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.P98P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		AGTACCTTGTCGGAGCTGTTG	0.348																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											134.0	124.0	127.0					14																	35002708		1854	4093	5947	-	-	-	SO:0001819	synonymous_variant	0			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.294G>A	14.37:g.35002708C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	pfam_E2F-assoc_phosphoprotein	p.P98	ENST00000250454.3	37	c.294	CCDS41941.1	14																																																																																			EAPP	-	NULL	ENSG00000129518		0.348	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAPP	HGNC	protein_coding	OTTHUMT00000409847.1	378	0.00	0	C	NM_018453		35002708	35002708	-1	no_errors	ENST00000250454	ensembl	human	known	69_37n	silent	214	24.38	69	SNP	0.000	T
EGR4	1961	genome.wustl.edu	37	2	73519008	73519008	+	Silent	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:73519008C>T	ENST00000545030.1	-	2	1421	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	EGR4_ENST00000436467.2_Silent_p.P346P	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	449	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P346P(1)|p.P449P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGTGGGCGGCGGCGGCGGCA	0.746																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											3.0	5.0	4.0					2																	73519008		1744	3675	5419	-	-	-	SO:0001819	synonymous_variant	0				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1347G>A	2.37:g.73519008C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P449	ENST00000545030.1	37	c.1347	CCDS1925.2	2																																																																																			EGR4	-	NULL	ENSG00000135625		0.746	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR4	HGNC	protein_coding		17	0.00	0	C	NM_001965		73519008	73519008	-1	no_errors	ENST00000545030	ensembl	human	known	69_37n	silent	8	46.67	7	SNP	0.338	T
ESPL1	9700	genome.wustl.edu	37	12	53682947	53682948	+	Frame_Shift_Ins	INS	-	-	CC	rs375264914		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr12:53682947_53682948insCC	ENST00000257934.4	+	21	4873_4874	c.4782_4783insCC	c.(4783-4785)gggfs	p.G1595fs	ESPL1_ENST00000552462.1_Frame_Shift_Ins_p.G1595fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1595					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTCCTCCTAGTGGGCTCTATGC	0.564																																					Colon(53;1069 1201 2587 5382)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	Exception_encountered	12.37:g.53682947_53682948insCC	ENSP00000257934:p.Gly1595fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Peptidase_C50	p.G1594fs	ENST00000257934.4	37	c.4782_4783	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.564	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	125	0.00	0	-	NM_012291		53682947	53682948	+1	no_errors	ENST00000257934	ensembl	human	known	69_37n	frame_shift_ins	26	69.41	59	INS	0.986:0.974	CC
FAM20C	56975	genome.wustl.edu	37	7	296993	296993	+	Frame_Shift_Del	DEL	C	C	-	rs376430486	byFrequency	TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr7:296993delC	ENST00000313766.5	+	8	1617	c.1386delC	c.(1384-1386)tacfs	p.Y462fs		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	462	Kinase domain.				dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		GTCACCACTACGAGACTTTTG	0.577																																						dbGAP											0													137.0	124.0	127.0					7																	296993		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.1386delC	7.37:g.296993delC	ENSP00000322323:p.Tyr462fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Frame_Shift_Del	DEL	pfam_DUF1193	p.Y462fs	ENST00000313766.5	37	c.1386	CCDS47522.1	7																																																																																			FAM20C	-	pfam_DUF1193	ENSG00000177706		0.577	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20C	HGNC	protein_coding	OTTHUMT00000322476.2	57	0.00	0	C	NM_020223		296993	296993	+1	no_errors	ENST00000313766	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	0.985	-
FRMD4A	55691	genome.wustl.edu	37	10	13708296	13708296	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr10:13708296C>A	ENST00000357447.2	-	18	1772	c.1404G>T	c.(1402-1404)gaG>gaT	p.E468D	FRMD4A_ENST00000378503.1_Missense_Mutation_p.E468D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E453D	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	468					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.E468D(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAATGGCAAACTCTCGTTCCA	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	67.0	67.0					10																	13708296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1404G>T	10.37:g.13708296C>A	ENSP00000350032:p.Glu468Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.E468D	ENST00000357447.2	37	c.1404	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234591	0.39498	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.85484	-1.98;-1.99;-1.99;-1.92	5.05	3.21	0.36854	.	0.097790	0.64402	D	0.000002	T	0.74876	0.3774	N	0.17312	0.475	0.54753	D	0.999982	P;B	0.42735	0.788;0.387	P;P	0.45660	0.472;0.489	T	0.67791	-0.5579	10	0.23302	T	0.38	-30.7123	8.0984	0.30842	0.0:0.6292:0.0:0.3708	.	501;468	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	D	453;468;468;501	ENSP00000351438:E453D;ENSP00000350032:E468D;ENSP00000367764:E468D;ENSP00000264546:E501D	ENSP00000264546:E501D	E	-	3	2	FRMD4A	13748302	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	0.781000	0.26774	0.735000	0.32537	0.561000	0.74099	GAG	FRMD4A	-	pfam_DUF3338	ENSG00000151474		0.567	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	147	0.00	0	C	NM_018027		13708296	13708296	-1	no_errors	ENST00000357447	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	A
GABRA6	2559	genome.wustl.edu	37	5	161119043	161119043	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr5:161119043C>A	ENST00000274545.5	+	8	1356	c.923C>A	c.(922-924)gCt>gAt	p.A308D	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.A298D			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	308					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A308D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGGTTCATAGCTGTTTGCTTT	0.458										TCGA Ovarian(5;0.080)																												dbGAP											1	Substitution - Missense(1)	breast(1)											169.0	141.0	150.0					5																	161119043		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.923C>A	5.37:g.161119043C>A	ENSP00000274545:p.Ala308Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A308D	ENST00000274545.5	37	c.923	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.125950	0.94429	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.86432	-2.12;-2.12	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95121	0.8419	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95949	0.8953	10	0.87932	D	0	.	18.9984	0.92822	0.0:1.0:0.0:0.0	.	308	Q16445	GBRA6_HUMAN	D	308;298	ENSP00000274545:A308D;ENSP00000430527:A298D	ENSP00000274545:A308D	A	+	2	0	GABRA6	161051621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.468000	0.83385	0.650000	0.86243	GCT	GABRA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000145863		0.458	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	192	0.00	0	C			161119043	161119043	+1	no_errors	ENST00000274545	ensembl	human	known	69_37n	missense	86	25.22	29	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8115942	8115943	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr10:8115942_8115943delTT	ENST00000346208.3	+	6	1743_1744	c.1288_1289delTT	c.(1288-1290)tttfs	p.F430fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.F431fs			P23771	GATA3_HUMAN	GATA binding protein 3	430					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.F431fs*>14(1)		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						CAGCCTGTCCTTTGGACCACAC	0.639			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	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.1288_1289delTT	10.37:g.8115942_8115943delTT	ENSP00000341619:p.Phe430fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.F431fs	ENST00000346208.3	37	c.1291_1292	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.639	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	109	0.00	0	TT	NM_001002295		8115942	8115943	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	96	15.65	18	DEL	1.000:1.000	-
GPSM2	29899	genome.wustl.edu	37	1	109465061	109465061	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:109465061G>C	ENST00000406462.2	+	14	2236	c.1463G>C	c.(1462-1464)gGa>gCa	p.G488A	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.G488A			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	488					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.G481A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GATACTATTGGAGATGAAGGG	0.338																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	101.0	100.0					1																	109465061		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1463G>C	1.37:g.109465061G>C	ENSP00000385510:p.Gly488Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G488A	ENST00000406462.2	37	c.1463	CCDS792.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.634106|2.634106	0.47049|0.47049	.|.	.|.	ENSG00000121957|ENSG00000121957	ENST00000441735|ENST00000406462;ENST00000264126	.|D;D	.|0.93133	.|-3.17;-3.17	6.17|6.17	5.26|5.26	0.73747|0.73747	.|.	.|0.301305	.|0.36665	.|N	.|0.002464	D|D	0.82393|0.82393	0.5027|0.5027	L|L	0.31065|0.31065	0.9|0.9	0.40466|0.40466	D|D	0.98029|0.98029	.|B	.|0.16802	.|0.019	.|B	.|0.14578	.|0.011	T|T	0.78740|0.78740	-0.2086|-0.2086	5|10	.|0.13853	.|T	.|0.58	-5.2039|-5.2039	16.9354|16.9354	0.86202|0.86202	0.0:0.2549:0.7451:0.0|0.0:0.2549:0.7451:0.0	.|.	.|488	.|P81274	.|GPSM2_HUMAN	Q|A	78|488	.|ENSP00000385510:G488A;ENSP00000264126:G488A	.|ENSP00000264126:G488A	E|G	+|+	1|2	0|0	GPSM2|GPSM2	109266584|109266584	1.000000|1.000000	0.71417|0.71417	0.849000|0.849000	0.33467|0.33467	0.847000|0.847000	0.48162|0.48162	6.220000|6.220000	0.72237|0.72237	1.616000|1.616000	0.50265|0.50265	0.655000|0.655000	0.94253|0.94253	GAG|GGA	GPSM2	-	NULL	ENSG00000121957		0.338	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	148	0.00	0	G	NM_013296		109465061	109465061	+1	no_errors	ENST00000264126	ensembl	human	known	69_37n	missense	66	47.62	60	SNP	1.000	C
GRIN2B	2904	genome.wustl.edu	37	12	13716856	13716856	+	Nonsense_Mutation	SNP	C	C	A	rs199799650		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr12:13716856C>A	ENST00000609686.1	-	13	3525	c.3316G>T	c.(3316-3318)Gag>Tag	p.E1106*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1106					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E1106K(1)|p.E1106*(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGGCCAGCTCGATCTCGTCA	0.617																																						dbGAP											2	Substitution - Missense(1)|Substitution - Nonsense(1)	breast(1)|central_nervous_system(1)											65.0	61.0	62.0					12																	13716856		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3316G>T	12.37:g.13716856C>A	ENSP00000477455:p.Glu1106*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Nonsense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E1106*	ENST00000609686.1	37	c.3316	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.409627	0.99163	.	.	ENSG00000150086	ENST00000279593	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.756	0.96291	0.0:1.0:0.0:0.0	.	.	.	.	X	1106	.	ENSP00000279593:E1106X	E	-	1	0	GRIN2B	13608123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.412000	0.80091	2.665000	0.90641	0.655000	0.94253	GAG	GRIN2B	-	pfam_NMDAR2_C	ENSG00000150086		0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	85	0.00	0	C			13716856	13716856	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	nonsense	16	51.52	17	SNP	1.000	A
HNRNPUL2	221092	genome.wustl.edu	37	11	62491838	62491839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:62491838_62491839insC	ENST00000301785.5	-	2	790_791	c.598_599insG	c.(598-600)gtafs	p.V200fs	HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Ins_p.V200fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	200	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTCTCTTTACCCCCCGCCGC	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.599dupG	11.37:g.62491844_62491844dupC	ENSP00000301785:p.Val200fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3B3	Frame_Shift_Ins	INS	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.V200fs	ENST00000301785.5	37	c.599_598	CCDS41659.1	11																																																																																			HNRNPUL2	-	NULL	ENSG00000214753		0.500	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	161	0.00	0	-	XM_495877		62491838	62491839	-1	no_errors	ENST00000301785	ensembl	human	known	69_37n	frame_shift_ins	50	31.51	23	INS	1.000:1.000	C
HSF5	124535	genome.wustl.edu	37	17	56565462	56565463	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr17:56565462_56565463insC	ENST00000323777.3	-	1	282_283	c.173_174insG	c.(172-174)ggcfs	p.G58fs		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	58					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcccgccaccgccccccggccc	0.718																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.174dupG	17.37:g.56565468_56565468dupC	ENSP00000313243:p.Gly58fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08EH7|Q8N7V2	Frame_Shift_Ins	INS	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.G59fs	ENST00000323777.3	37	c.174_173	CCDS32690.1	17																																																																																			HSF5	-	smart_HSF_DNA-bd	ENSG00000176160		0.718	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	10	0.00	0	-	XM_064190		56565462	56565463	-1	no_errors	ENST00000323777	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.000:0.110	C
IL1R1	3554	genome.wustl.edu	37	2	102781403	102781403	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:102781403C>G	ENST00000410023.1	+	4	549	c.231C>G	c.(229-231)caC>caG	p.H77Q	IL1R1_ENST00000233946.3_Missense_Mutation_p.H77Q|IL1R1_ENST00000409589.1_Missense_Mutation_p.H77Q|IL1R1_ENST00000409288.1_Missense_Mutation_p.H77Q|IL1R1_ENST00000409929.1_Missense_Mutation_p.H77Q|IL1R1_ENST00000409329.1_Missense_Mutation_p.H77Q|IL1R1_ENST00000424272.1_Missense_Mutation_p.H77Q			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	77	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.H77Q(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TTCATCAACACAAAGAGAAAC	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	111.0	115.0					2																	102781403		2203	4300	6503	-	-	-	SO:0001583	missense	0			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.231C>G	2.37:g.102781403C>G	ENSP00000386380:p.His77Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q587I7	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,pfscan_TIR_dom,pfscan_Ig-like	p.H77Q	ENST00000410023.1	37	c.231	CCDS2055.1	2	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.004846	0.00431	.	.	ENSG00000115594	ENST00000452403;ENST00000409929;ENST00000424272;ENST00000409589;ENST00000409329;ENST00000450319;ENST00000442590;ENST00000409288;ENST00000410023;ENST00000233946;ENST00000430171	T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;0.8;-0.16;-0.16;0.8;-0.16;-0.16;-0.16;0.8	5.63	1.87	0.25490	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.958813	0.08787	N	0.893832	T	0.38612	0.1047	N	0.16201	0.385	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.17979	0.02;0.014;0.007	T	0.25222	-1.0138	10	0.15952	T	0.53	.	2.759	0.05302	0.1242:0.3894:0.3239:0.1625	.	77;77;77	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	Q	77	ENSP00000386776:H77Q;ENSP00000415366:H77Q;ENSP00000386555:H77Q;ENSP00000387131:H77Q;ENSP00000411627:H77Q;ENSP00000393296:H77Q;ENSP00000386478:H77Q;ENSP00000386380:H77Q;ENSP00000233946:H77Q;ENSP00000408101:H77Q	ENSP00000233946:H77Q	H	+	3	2	IL1R1	102147835	0.000000	0.05858	0.008000	0.14137	0.112000	0.19704	-0.540000	0.06106	0.133000	0.18654	0.655000	0.94253	CAC	IL1R1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000115594		0.398	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	HGNC	protein_coding	OTTHUMT00000253299.1	246	0.00	0	C			102781403	102781403	+1	no_errors	ENST00000233946	ensembl	human	known	69_37n	missense	95	31.65	44	SNP	0.011	G
KIAA0825	285600	genome.wustl.edu	37	5	93856500	93856500	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr5:93856500G>A	ENST00000329378.7	-	5	672	c.423C>T	c.(421-423)ctC>ctT	p.L141L	KIAA0825_ENST00000513200.3_Silent_p.L141L|KIAA0825_ENST00000427991.2_Silent_p.L141L|KIAA0825_ENST00000312498.7_Silent_p.L141L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	141								p.L141L(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ACGTCCTAGAGAGGAAATGGA	0.418																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											63.0	65.0	64.0					5																	93856500		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.423C>T	5.37:g.93856500G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94914|Q6ZNN2	Silent	SNP	NULL	p.L141	ENST00000329378.7	37	c.423	CCDS4070.1	5																																																																																			KIAA0825	-	NULL	ENSG00000185261		0.418	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2	163	0.00	0	G	NM_173665		93856500	93856500	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	silent	55	32.10	26	SNP	0.244	A
KIAA1462	57608	genome.wustl.edu	37	10	30318049	30318049	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr10:30318049G>A	ENST00000375377.1	-	3	1129	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	343	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.P343L(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTATGAGGGCGGAGGCACGTA	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	112.0	111.0					10																	30318049		2174	4267	6441	-	-	-	SO:0001583	missense	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1028C>T	10.37:g.30318049G>A	ENSP00000364526:p.Pro343Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.P343L	ENST00000375377.1	37	c.1028	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.080004	0.94050	.	.	ENSG00000165757	ENST00000375377	T	0.38887	1.11	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69752	-0.5060	10	0.87932	D	0	-26.5502	18.5816	0.91172	0.0:0.0:1.0:0.0	.	343	Q9P266	K1462_HUMAN	L	343	ENSP00000364526:P343L	ENSP00000364526:P343L	P	-	2	0	KIAA1462	30358055	1.000000	0.71417	0.958000	0.39756	0.921000	0.55340	8.988000	0.93501	2.464000	0.83262	0.561000	0.74099	CCG	KIAA1462	-	NULL	ENSG00000165757		0.582	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	79	0.00	0	G	NM_020848		30318049	30318049	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	missense	73	20.65	19	SNP	1.000	A
KIF21B	23046	genome.wustl.edu	37	1	200959737	200959737	+	Silent	SNP	G	G	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:200959737G>C	ENST00000422435.2	-	19	3118	c.2802C>G	c.(2800-2802)gtC>gtG	p.V934V	KIF21B_ENST00000360529.5_Silent_p.V934V|KIF21B_ENST00000461742.2_Silent_p.V934V|KIF21B_ENST00000332129.2_Silent_p.V934V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	934					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V934V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCAGGTTGACAATGGTCA	0.577																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											88.0	83.0	85.0					1																	200959737		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2802C>G	1.37:g.200959737G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S53*	ENST00000422435.2	37	c.158	CCDS58056.1	1																																																																																			KIF21B	-	NULL	ENSG00000116852		0.577	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	115	0.00	0	G	XM_371332		200959737	200959737	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000477146	ensembl	human	known	69_37n	nonsense	26	74.76	77	SNP	0.993	C
KIF21B	23046	genome.wustl.edu	37	1	200960092	200960092	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:200960092G>A	ENST00000422435.2	-	18	2956	c.2640C>T	c.(2638-2640)ttC>ttT	p.F880F	KIF21B_ENST00000360529.5_Silent_p.F880F|KIF21B_ENST00000461742.2_Silent_p.F880F|KIF21B_ENST00000332129.2_Silent_p.F880F	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	880					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F880F(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCCCCCAAGAAGTGGTTGA	0.627																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											94.0	94.0	94.0					1																	200960092		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2640C>T	1.37:g.200960092G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.F880	ENST00000422435.2	37	c.2640	CCDS58056.1	1																																																																																			KIF21B	-	NULL	ENSG00000116852		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	60	0.00	0	G	XM_371332		200960092	200960092	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	silent	36	56.10	46	SNP	0.974	A
LACTB	114294	genome.wustl.edu	37	15	63433916	63433916	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr15:63433916T>C	ENST00000261893.4	+	6	1628	c.1556T>C	c.(1555-1557)gTt>gCt	p.V519A	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	519						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.V519A(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGAATCATTGTTTCTATCATA	0.438																																					Melanoma(85;443 1381 6215 27308 35583)	dbGAP											1	Substitution - Missense(1)	breast(1)											57.0	52.0	54.0					15																	63433916		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1556T>C	15.37:g.63433916T>C	ENSP00000261893:p.Val519Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	P83096	Missense_Mutation	SNP	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.V519A	ENST00000261893.4	37	c.1556	CCDS10182.1	15	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035678	0.75617	.	.	ENSG00000103642	ENST00000261893	T	0.51325	0.71	5.64	5.64	0.86602	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79505	-0.1776	10	0.87932	D	0	-18.6217	15.3269	0.74172	0.0:0.0:0.0:1.0	.	519	P83111	LACTB_HUMAN	A	519	ENSP00000261893:V519A	ENSP00000261893:V519A	V	+	2	0	LACTB	61220969	1.000000	0.71417	0.890000	0.34922	0.677000	0.39632	7.742000	0.85008	2.273000	0.75805	0.460000	0.39030	GTT	LACTB	-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	ENSG00000103642		0.438	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	HGNC	protein_coding	OTTHUMT00000256224.1	107	0.00	0	T	NM_032857		63433916	63433916	+1	no_errors	ENST00000261893	ensembl	human	known	69_37n	missense	33	58.54	48	SNP	0.997	C
LCN10	414332	genome.wustl.edu	37	9	139634403	139634403	+	Splice_Site	SNP	G	G	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr9:139634403G>C	ENST00000474369.1	-	4	533	c.534C>G	c.(532-534)gaC>gaG	p.D178E	LCN10_ENST00000497771.1_Splice_Site_p.D191E|LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000527229.1_Splice_Site_p.D155E			Q6JVE6	LCN10_HUMAN	lipocalin 10	178					transport (GO:0006810)	extracellular region (GO:0005576)		p.D191E(2)		breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		ACAGCTTACCGTCTTTCGGGA	0.557																																						dbGAP											2	Substitution - Missense(2)	breast(2)											91.0	67.0	75.0					9																	139634403		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"""Lipocalins"""	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.535+1C>G	9.37:g.139634403G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUU3|B0QZ79	Missense_Mutation	SNP	superfamily_Calycin-like	p.D191E	ENST00000474369.1	37	c.573	CCDS35182.2	9	.	.	.	.	.	.	.	.	.	.	g	14.45	2.538825	0.45176	.	.	ENSG00000187922	ENST00000527229;ENST00000497771;ENST00000474369	T;T;T	0.11712	2.75;2.75;2.75	2.66	-2.73	0.05950	Calycin-like (1);Calycin (1);	0.000000	0.41938	D	0.000788	T	0.22360	0.0539	.	.	.	0.21675	N	0.999599	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.81914	0.988;0.995;0.995	T	0.02829	-1.1105	9	0.54805	T	0.06	-11.4161	7.653	0.28358	0.6294:0.0:0.3706:0.0	.	155;178;191	E9PK15;Q6JVE6;Q6JVE6-2	.;LCN10_HUMAN;.	E	155;191;178	ENSP00000431726:D155E;ENSP00000418491:D191E;ENSP00000420564:D178E	ENSP00000420564:D178E	D	-	3	2	LCN10	138754224	0.292000	0.24362	0.419000	0.26584	0.016000	0.09150	-1.025000	0.03600	-0.728000	0.04882	-1.091000	0.02175	GAC	LCN10	-	superfamily_Calycin-like	ENSG00000187922		0.557	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LCN10	HGNC	protein_coding	OTTHUMT00000318062.2	154	0.00	0	G	NM_001001712	Missense_Mutation	139634403	139634403	-1	no_errors	ENST00000497771	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	0.486	C
LRIG2	9860	genome.wustl.edu	37	1	113662083	113662083	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:113662083C>T	ENST00000361127.5	+	17	3107	c.2909C>T	c.(2908-2910)gCc>gTc	p.A970V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	970					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A970V(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GAGCCATCTGCCTTTCCCACC	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											123.0	117.0	119.0					1																	113662083		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2909C>T	1.37:g.113662083C>T	ENSP00000355396:p.Ala970Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A970V	ENST00000361127.5	37	c.2909	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	C	2.491	-0.317397	0.05386	.	.	ENSG00000198799	ENST00000361127	T	0.56611	0.45	5.3	3.03	0.35002	.	0.164731	0.41605	D	0.000846	T	0.09379	0.0231	N	0.04203	-0.255	0.27579	N	0.949651	B	0.02656	0.0	B	0.04013	0.001	T	0.27262	-1.0079	10	0.16420	T	0.52	.	6.5764	0.22569	0.0:0.6761:0.0:0.3239	.	970	O94898	LRIG2_HUMAN	V	970	ENSP00000355396:A970V	ENSP00000355396:A970V	A	+	2	0	LRIG2	113463606	1.000000	0.71417	0.989000	0.46669	0.458000	0.32498	1.722000	0.38042	1.372000	0.46190	0.591000	0.81541	GCC	LRIG2	-	NULL	ENSG00000198799		0.448	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	294	0.00	0	C	NM_014813		113662083	113662083	+1	no_errors	ENST00000361127	ensembl	human	known	69_37n	missense	140	25.93	49	SNP	1.000	T
MAGEL2	54551	genome.wustl.edu	37	15	23889881	23889881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr15:23889881delG	ENST00000532292.1	-	1	1294	c.1200delC	c.(1198-1200)tccfs	p.S401fs		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	284	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGGTGGCACTGGATCCCGGAG	0.597																																						dbGAP											0													43.0	44.0	43.0					15																	23889881		1999	4176	6175	-	-	-	SO:0001589	frameshift_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1200delC	15.37:g.23889881delG	ENSP00000433433:p.Ser401fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_MAGE,pfscan_MAGE	p.S401fs	ENST00000532292.1	37	c.1200		15																																																																																			MAGEL2	-	NULL	ENSG00000254585		0.597	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	67	0.00	0	G	NM_019066		23889881	23889881	-1	no_errors	ENST00000532292	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.000	-
MKRN3	7681	genome.wustl.edu	37	15	23812230	23812230	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr15:23812230G>C	ENST00000314520.3	+	1	1777	c.1301G>C	c.(1300-1302)gGt>gCt	p.G434A	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	434					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G434A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCTGGGCCAGGTGGTGGGTCA	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											97.0	90.0	92.0					15																	23812230		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1301G>C	15.37:g.23812230G>C	ENSP00000313881:p.Gly434Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.G434A	ENST00000314520.3	37	c.1301	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	G	6.500	0.460478	0.12342	.	.	ENSG00000179455	ENST00000314520	T	0.30182	1.54	3.09	1.08	0.20341	.	0.306378	0.32161	N	0.006494	T	0.13713	0.0332	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.24541	0.054	T	0.13150	-1.0520	10	0.33141	T	0.24	.	4.8268	0.13419	0.4874:0.0:0.5126:0.0	.	434	Q13064	MKRN3_HUMAN	A	434	ENSP00000313881:G434A	ENSP00000313881:G434A	G	+	2	0	MKRN3	21363323	0.061000	0.20836	0.047000	0.18901	0.099000	0.18886	1.555000	0.36277	0.293000	0.22520	0.563000	0.77884	GGT	MKRN3	-	NULL	ENSG00000179455		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	174	0.57	1	G	NM_005664		23812230	23812230	+1	no_errors	ENST00000314520	ensembl	human	known	69_37n	missense	44	59.63	65	SNP	0.042	C
MLPH	79083	genome.wustl.edu	37	2	238436082	238436082	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:238436082G>A	ENST00000264605.3	+	8	1237	c.943G>A	c.(943-945)Gat>Aat	p.D315N	MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.D315N|MLPH_ENST00000409373.1_Missense_Mutation_p.D275N|MLPH_ENST00000445024.2_Missense_Mutation_p.D315N|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	315					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.D315N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGACACCTCTGATGAGGAAAG	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	101.0	99.0					2																	238436082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.943G>A	2.37:g.238436082G>A	ENSP00000264605:p.Asp315Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.D315N	ENST00000264605.3	37	c.943	CCDS2518.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027461	0.75390	.	.	ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T	0.42900	1.88;1.85;1.32;0.96	4.71	4.71	0.59529	.	1.416630	0.04384	N	0.361270	T	0.64735	0.2625	L	0.58810	1.83	0.31325	N	0.685524	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.76575	0.954;0.965;0.972;0.961;0.988;0.972	T	0.50775	-0.8788	10	0.48119	T	0.1	-16.0617	13.1653	0.59567	0.0:0.0:1.0:0.0	.	315;199;315;275;315;315	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36	.;.;.;.;.;MELPH_HUMAN	N	315;315;315;275	ENSP00000264605:D315N;ENSP00000414849:D315N;ENSP00000341845:D315N;ENSP00000386780:D275N	ENSP00000264605:D315N	D	+	1	0	MLPH	238100821	0.973000	0.33851	0.065000	0.19835	0.059000	0.15707	4.406000	0.59748	2.163000	0.67991	0.561000	0.74099	GAT	MLPH	-	NULL	ENSG00000115648		0.557	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	164	0.00	0	G	NM_024101		238436082	238436082	+1	no_errors	ENST00000264605	ensembl	human	known	69_37n	missense	44	45.78	38	SNP	0.464	A
MMP26	56547	genome.wustl.edu	37	11	5010971	5010971	+	Missense_Mutation	SNP	G	G	T	rs201829333	byFrequency	TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:5010971G>T	ENST00000380390.1	+	3	409	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	MMP26_ENST00000300762.1_Missense_Mutation_p.G65W|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	65					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G65W(1)|p.G65R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCATCGGAATGGGACAGACCT	0.527													G|||	4	0.000798722	0.0	0.0058	5008	,	,		20016	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	lung(1)|breast(1)											84.0	66.0	72.0					11																	5010971		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.193G>T	11.37:g.5010971G>T	ENSP00000369753:p.Gly65Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.G65W	ENST00000380390.1	37	c.193	CCDS7752.1	11	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.08	1.831021	0.32329	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.38077	1.16;1.16	3.73	1.81	0.25067	Metallopeptidase, catalytic domain (1);	1.159660	0.06762	N	0.782031	T	0.34658	0.0905	L	0.40543	1.245	0.09310	N	1	D	0.54047	0.964	P	0.46172	0.506	T	0.25779	-1.0122	10	0.72032	D	0.01	0.4	6.8431	0.23973	0.2392:0.0:0.7608:0.0	.	65	Q9NRE1	MMP26_HUMAN	W	65	ENSP00000369753:G65W;ENSP00000300762:G65W	ENSP00000300762:G65W	G	+	1	0	MMP26	4967547	0.119000	0.22226	0.001000	0.08648	0.048000	0.14542	1.924000	0.40065	0.541000	0.28827	0.557000	0.71058	GGG	MMP26	-	superfamily_Peptidoglycan-bd-like	ENSG00000167346		0.527	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	114	0.00	0	G	NM_021801		5010971	5010971	+1	no_errors	ENST00000300762	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	0.006	T
MUC12	10071	genome.wustl.edu	37	7	100647960	100647960	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr7:100647960G>T	ENST00000379442.3	+	5	14545	c.14545G>T	c.(14545-14547)Ggc>Tgc	p.G4849C	MUC12_ENST00000536621.1_Missense_Mutation_p.G4706C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4849	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)		p.G4706C(1)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TACTACCTCAGGCCGCATTGC	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											210.0	207.0	208.0					7																	100647960		692	1591	2283	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14545G>T	7.37:g.100647960G>T	ENSP00000368755:p.Gly4849Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.G4849C	ENST00000379442.3	37	c.14545		7	.	.	.	.	.	.	.	.	.	.	g	1.742	-0.491507	0.04322	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.16897	2.31;2.31	0.588	0.588	0.17445	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.33752	-0.9856	7	0.54805	T	0.06	.	7.12	0.25440	1.0E-4:0.0:0.9999:0.0	.	.	.	.	C	4849;4706	ENSP00000368755:G4849C;ENSP00000441929:G4706C	ENSP00000368755:G4849C	G	+	1	0	MUC12	100434680	0.038000	0.19896	0.001000	0.08648	0.002000	0.02628	1.812000	0.38952	0.620000	0.30215	0.413000	0.27773	GGC	MUC12	-	NULL	ENSG00000205277		0.507	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	312	0.32	1	G	XM_379904		100647960	100647960	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	156	28.11	61	SNP	0.016	T
MYO3A	53904	genome.wustl.edu	37	10	26463134	26463134	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr10:26463134C>A	ENST00000265944.5	+	30	4107	c.3941C>A	c.(3940-3942)gCa>gAa	p.A1314E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1314					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A1314E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACCCAGCGTGCACCGATATGC	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											117.0	123.0	121.0					10																	26463134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3941C>A	10.37:g.26463134C>A	ENSP00000265944:p.Ala1314Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.A1314E	ENST00000265944.5	37	c.3941	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	0.288	-0.981723	0.02197	.	.	ENSG00000095777	ENST00000265944	T	0.77877	-1.13	5.22	0.915	0.19366	.	0.564840	0.20175	N	0.097645	T	0.50446	0.1616	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27331	-1.0077	10	0.29301	T	0.29	.	3.0277	0.06096	0.3034:0.2783:0.3316:0.0866	.	1314	Q8NEV4	MYO3A_HUMAN	E	1314	ENSP00000265944:A1314E	ENSP00000265944:A1314E	A	+	2	0	MYO3A	26503140	0.000000	0.05858	0.038000	0.18304	0.038000	0.13279	-0.087000	0.11215	0.580000	0.29522	0.563000	0.77884	GCA	MYO3A	-	NULL	ENSG00000095777		0.453	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	326	0.31	1	C	NM_017433		26463134	26463134	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	239	19.26	57	SNP	0.000	A
NCAPD3	23310	genome.wustl.edu	37	11	134062803	134062803	+	Splice_Site	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:134062803G>A	ENST00000534548.2	-	16	1890	c.1826C>T	c.(1825-1827)gCt>gTt	p.A609V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	609					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.A609V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTAGGCTGAGCCTTAGGAGT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											47.0	47.0	47.0					11																	134062803		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1825-1C>T	11.37:g.134062803G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Condns_HCP-6	p.A609V	ENST00000534548.2	37	c.1826	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735894	0.49045	.	.	ENSG00000151503	ENST00000534548	T	0.64085	-0.08	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	M	0.73598	2.24	0.80722	D	1	P	0.39862	0.692	B	0.28139	0.086	T	0.66779	-0.5837	10	0.44086	T	0.13	-22.2751	19.4624	0.94922	0.0:0.0:1.0:0.0	.	609	P42695	CNDD3_HUMAN	V	609	ENSP00000433681:A609V	ENSP00000431612:A609V	A	-	2	0	NCAPD3	133568013	1.000000	0.71417	0.976000	0.42696	0.199000	0.23934	3.599000	0.54045	2.671000	0.90904	0.591000	0.81541	GCT	NCAPD3	-	superfamily_ARM-type_fold,pirsf_Condns_HCP-6	ENSG00000151503		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	120	0.00	0	G	NM_015261	Missense_Mutation	134062803	134062803	-1	no_errors	ENST00000534548	ensembl	human	known	69_37n	missense	48	33.33	24	SNP	1.000	A
NOA1	84273	genome.wustl.edu	37	4	57842745	57842745	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr4:57842745C>T	ENST00000264230.4	-	1	2244	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	336	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R336H(1)									CCCACGGTAGCGCCAGGAGCG	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											84.0	81.0	82.0					4																	57842745		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1007G>A	4.37:g.57842745C>T	ENSP00000264230:p.Arg336His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NULL	p.R336H	ENST00000264230.4	37	c.1007	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414951	0.83449	.	.	ENSG00000084092	ENST00000264230	T	0.14516	2.5	5.68	5.68	0.88126	.	0.056141	0.64402	D	0.000004	T	0.33818	0.0876	M	0.79805	2.47	0.43007	D	0.994532	D	0.89917	1.0	D	0.66602	0.945	T	0.13737	-1.0498	10	0.72032	D	0.01	.	7.4258	0.27098	0.0:0.8016:0.0:0.1984	.	336	Q8NC60	CD014_HUMAN	H	336	ENSP00000264230:R336H	ENSP00000264230:R336H	R	-	2	0	C4orf14	57537502	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.003000	0.49505	2.672000	0.90937	0.555000	0.69702	CGC	NOA1	-	NULL	ENSG00000084092		0.612	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	85	0.00	0	C	NM_032313		57842745	57842745	-1	no_errors	ENST00000264230	ensembl	human	known	69_37n	missense	38	51.28	40	SNP	1.000	T
NRP1	8829	genome.wustl.edu	37	10	33543059	33543059	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr10:33543059G>A	ENST00000265371.4	-	7	1403	c.878C>T	c.(877-879)gCt>gTt	p.A293V	NRP1_ENST00000432372.2_Missense_Mutation_p.A293V|NRP1_ENST00000374822.4_Missense_Mutation_p.A293V|NRP1_ENST00000395995.1_Missense_Mutation_p.A293V|NRP1_ENST00000374875.1_Missense_Mutation_p.A112V|NRP1_ENST00000374867.2_Missense_Mutation_p.A293V|NRP1_ENST00000374816.3_Missense_Mutation_p.A293V|NRP1_ENST00000374821.5_Missense_Mutation_p.A293V|NRP1_ENST00000374823.5_Missense_Mutation_p.A293V			O14786	NRP1_HUMAN	neuropilin 1	293	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A293V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTGGGAAGAAGCTGTGATCTG	0.493																																					Melanoma(104;886 1489 44640 45944 51153)	dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	101.0	104.0					10																	33543059		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.878C>T	10.37:g.33543059G>A	ENSP00000265371:p.Ala293Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.A293V	ENST00000265371.4	37	c.878	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979395	0.53827	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	D;D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.28	3.03	0.35002	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.151382	0.64402	N	0.000015	D	0.96956	0.9006	M	0.79258	2.445	0.52501	D	0.999954	B;B;B;B;B;B;B;B;B	0.31730	0.009;0.337;0.337;0.053;0.012;0.006;0.009;0.057;0.004	B;B;B;B;B;B;B;B;B	0.28709	0.026;0.093;0.093;0.054;0.002;0.003;0.026;0.032;0.007	D	0.95663	0.8717	10	0.52906	T	0.07	-13.8964	6.5746	0.22557	0.3669:0.0:0.6331:0.0	.	293;293;293;293;293;293;293;112;293	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	V	293;112;293;293;293;293;293;293;112	ENSP00000265371:A293V;ENSP00000364009:A112V;ENSP00000364001:A293V;ENSP00000379317:A293V;ENSP00000363955:A293V;ENSP00000363954:A293V;ENSP00000363956:A293V;ENSP00000363949:A293V	ENSP00000265371:A293V	A	-	2	0	NRP1	33583065	0.990000	0.36364	0.961000	0.40146	0.977000	0.68977	2.495000	0.45337	1.363000	0.46019	0.650000	0.86243	GCT	NRP1	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000099250		0.493	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	164	0.00	0	G			33543059	33543059	-1	no_errors	ENST00000265371	ensembl	human	known	69_37n	missense	168	19.52	41	SNP	0.994	A
NXPE1	120400	genome.wustl.edu	37	11	114400922	114400922	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:114400922C>A	ENST00000424269.1	-	2	807	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	snoU13_ENST00000459372.1_RNA|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Missense_Mutation_p.D270Y|NXPE1_ENST00000251921.2_Missense_Mutation_p.D128Y			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	270						extracellular region (GO:0005576)		p.D128Y(1)									TTTTCCTTGTCTGTAAGATAA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											89.0	90.0	89.0					11																	114400922		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.808G>T	11.37:g.114400922C>A	ENSP00000411690:p.Asp270Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ13	Missense_Mutation	SNP	superfamily_Ig_E-set	p.D270Y	ENST00000424269.1	37	c.808		11	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142410	0.21205	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.45276	2.47;2.69;0.9	4.4	-3.23	0.05109	.	3.900320	0.01053	N	0.004518	T	0.28333	0.0700	N	0.19112	0.55	0.09310	N	1	B	0.17852	0.024	B	0.21917	0.037	T	0.32268	-0.9913	10	0.59425	D	0.04	.	5.3189	0.15870	0.0:0.3844:0.254:0.3616	.	270	F5H6W7	.	Y	128;270;270	ENSP00000251921:D128Y;ENSP00000411690:D270Y;ENSP00000442984:D270Y	ENSP00000251921:D128Y	D	-	1	0	FAM55A	113906132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.685000	0.25378	-0.360000	0.08138	-0.150000	0.13652	GAC	NXPE1	-	NULL	ENSG00000095110		0.468	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		348	0.00	0	C	NM_152315		114400922	114400922	-1	no_errors	ENST00000424269	ensembl	human	known	69_37n	missense	155	18.85	36	SNP	0.000	A
ODF2	4957	genome.wustl.edu	37	9	131247750	131247750	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr9:131247750A>T	ENST00000434106.3	+	13	1760	c.1397A>T	c.(1396-1398)aAt>aTt	p.N466I	ODF2_ENST00000372807.5_Missense_Mutation_p.N461I|ODF2_ENST00000372814.3_Missense_Mutation_p.N510I|ODF2_ENST00000444119.2_Missense_Mutation_p.N442I|ODF2_ENST00000448249.3_Missense_Mutation_p.N385I|ODF2_ENST00000351030.3_Missense_Mutation_p.N461I|ODF2_ENST00000393527.3_Missense_Mutation_p.N442I|ODF2_ENST00000604420.1_Missense_Mutation_p.N466I|ODF2_ENST00000393533.2_Missense_Mutation_p.N466I|ODF2_ENST00000546203.1_Missense_Mutation_p.N447I|ODF2_ENST00000372791.3_Missense_Mutation_p.N447I	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	466					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.N510I(1)|p.N466I(1)|p.N442I(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATTGTCCTGAATGAGTACGTC	0.527																																						dbGAP											3	Substitution - Missense(3)	breast(3)											78.0	68.0	71.0					9																	131247750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1397A>T	9.37:g.131247750A>T	ENSP00000403453:p.Asn466Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.N466I	ENST00000434106.3	37	c.1397	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423007	0.62733	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;1.76;0.95;0.95;0.95	5.58	5.58	0.84498	.	0.193203	0.52532	D	0.000068	T	0.40015	0.1100	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.48764	0.794;0.915;0.794;0.708;0.831;0.831;0.794;0.915;0.708	B;P;B;B;B;B;B;P;B	0.44946	0.21;0.465;0.31;0.232;0.381;0.406;0.21;0.465;0.249	T	0.30268	-0.9984	10	0.45353	T	0.12	-18.9645	9.1341	0.36863	0.9181:0.0:0.0819:0.0	.	447;461;385;400;466;510;447;466;442	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;ODFP2_HUMAN;.	I	466;510;461;466;442;385;447;447	ENSP00000377166:N466I;ENSP00000361901:N510I;ENSP00000342581:N461I;ENSP00000361882:N466I;ENSP00000307781:N442I;ENSP00000396687:N385I;ENSP00000437579:N447I;ENSP00000361877:N447I	ENSP00000307781:N442I	N	+	2	0	ODF2	130287571	0.999000	0.42202	0.994000	0.49952	0.925000	0.55904	4.352000	0.59404	2.134000	0.65973	0.459000	0.35465	AAT	ODF2	-	NULL	ENSG00000136811		0.527	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	205	0.00	0	A			131247750	131247750	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	missense	86	31.20	39	SNP	0.987	T
OR6N1	128372	genome.wustl.edu	37	1	158735726	158735726	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:158735726G>A	ENST00000335094.2	-	1	766	c.747C>T	c.(745-747)ctC>ctT	p.L249L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L249L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CATAGAAGATGAGAACCACAG	0.537																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											173.0	163.0	166.0					1																	158735726		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.747C>T	1.37:g.158735726G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUU8|Q96R35	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L249	ENST00000335094.2	37	c.747	CCDS30905.1	1																																																																																			OR6N1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197403		0.537	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	461	0.00	0	G	NM_001005185		158735726	158735726	-1	no_errors	ENST00000335094	ensembl	human	known	69_37n	silent	204	36.34	117	SNP	0.910	A
PCDHA1	56147	genome.wustl.edu	37	5	140166325	140166325	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr5:140166325G>A	ENST00000504120.2	+	1	450	c.450G>A	c.(448-450)tcG>tcA	p.S150S	PCDHA1_ENST00000378133.3_Silent_p.S150S|PCDHA1_ENST00000394633.3_Silent_p.S150S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	150					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S150S(4)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGAATTCGCGTTTTCCGA	0.448																																						dbGAP											4	Substitution - coding silent(4)	large_intestine(2)|breast(2)											86.0	96.0	93.0					5																	140166325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.450G>A	5.37:g.140166325G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S150	ENST00000504120.2	37	c.450	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000204970		0.448	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	118	0.00	0	G	NM_018900		140166325	140166325	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	silent	23	46.51	20	SNP	0.000	A
PGAP3	93210	genome.wustl.edu	37	17	37842260	37842260	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr17:37842260C>T	ENST00000300658.4	-	2	286	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	PGAP3_ENST00000429199.2_Missense_Mutation_p.R65Q|ERBB2_ENST00000406381.2_5'Flank|ERBB2_ENST00000584601.1_5'Flank|PGAP3_ENST00000579146.1_Missense_Mutation_p.R65Q|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000378011.4_Missense_Mutation_p.R65Q	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	65					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R65Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						ACAGTCGTCCCGACAGGTCCA	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	71.0	82.0					17																	37842260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.194G>A	17.37:g.37842260C>T	ENSP00000300658:p.Arg65Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	pfam_Per1	p.R65Q	ENST00000300658.4	37	c.194	CCDS32641.1	17	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230126	0.22542	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.22	-7.78	0.01223	.	0.484884	0.20776	N	0.085881	T	0.12860	0.0312	N	0.19112	0.55	0.09310	N	0.999995	B;B;B;B	0.24368	0.049;0.002;0.04;0.102	B;B;B;B	0.14578	0.005;0.006;0.007;0.011	T	0.30736	-0.9968	9	0.10636	T	0.68	-1.308	6.2005	0.20573	0.0958:0.2146:0.0943:0.5953	.	65;9;65;65	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	Q	65;65;9;65	.	ENSP00000300658:R65Q	R	-	2	0	PGAP3	35095786	0.000000	0.05858	0.094000	0.20943	0.970000	0.65996	-0.406000	0.07187	-1.472000	0.01883	-1.080000	0.02220	CGG	PGAP3	-	pfam_Per1	ENSG00000161395		0.542	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP3	HGNC	protein_coding	OTTHUMT00000444825.2	117	0.85	1	C	NM_033419		37842260	37842260	-1	no_errors	ENST00000300658	ensembl	human	known	69_37n	missense	16	57.89	22	SNP	0.033	T
PKIG	11142	genome.wustl.edu	37	20	43243339	43243339	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr20:43243339G>A	ENST00000372889.1	+	5	727	c.142G>A	c.(142-144)Gag>Aag	p.E48K	PKIG_ENST00000372882.3_Missense_Mutation_p.E48K|PKIG_ENST00000372886.1_Missense_Mutation_p.E48K|PKIG_ENST00000372892.3_Missense_Mutation_p.E48K|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372887.1_Missense_Mutation_p.E48K|PKIG_ENST00000349959.3_Missense_Mutation_p.E48K|PKIG_ENST00000372894.3_Missense_Mutation_p.E48K|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372891.3_Missense_Mutation_p.E48K	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	48					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)	p.E48K(1)		breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			GCTGGCACTCGAGGGGGCAGG	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	62.0	63.0					20																	43243339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.142G>A	20.37:g.43243339G>A	ENSP00000361980:p.Glu48Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_cAMP_dep_PKI	p.E48K	ENST00000372889.1	37	c.142	CCDS13334.1	20	.	.	.	.	.	.	.	.	.	.	g	13.12	2.142806	0.37825	.	.	ENSG00000168734	ENST00000372894;ENST00000372892;ENST00000372891;ENST00000372889;ENST00000372887;ENST00000372882;ENST00000372886;ENST00000349959	.	.	.	5.35	4.41	0.53225	.	0.060425	0.64402	D	0.000004	T	0.36908	0.0984	.	.	.	0.33547	D	0.59561	B	0.20164	0.042	B	0.15484	0.013	T	0.43686	-0.9376	8	0.27785	T	0.31	-14.2935	8.6072	0.33780	0.0817:0.1528:0.7655:0.0	.	48	Q9Y2B9	IPKG_HUMAN	K	48	.	ENSP00000338067:E48K	E	+	1	0	PKIG	42676753	1.000000	0.71417	0.793000	0.32043	0.023000	0.10783	3.618000	0.54188	1.252000	0.44001	-0.147000	0.13772	GAG	PKIG	-	pfam_cAMP_dep_PKI	ENSG00000168734		0.642	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PKIG	HGNC	protein_coding	OTTHUMT00000127804.1	242	0.00	0	G			43243339	43243339	+1	no_errors	ENST00000349959	ensembl	human	known	69_37n	missense	107	25.69	37	SNP	0.918	A
POLG	5428	genome.wustl.edu	37	15	89870240	89870240	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr15:89870240C>A	ENST00000268124.5	-	8	1821	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	POLG_ENST00000442287.2_Missense_Mutation_p.K496N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	496					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.K496N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTTTCTTCTGCTTAAATTCTT	0.572								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	dbGAP											1	Substitution - Missense(1)	breast(1)											159.0	143.0	148.0					15																	89870240		2200	4299	6499	-	-	-	SO:0001583	missense	0			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1488G>T	15.37:g.89870240C>A	ENSP00000268124:p.Lys496Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.K496N	ENST00000268124.5	37	c.1488	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467067	0.43839	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.94184	-3.37;-3.37	5.22	3.32	0.38043	.	0.043063	0.85682	D	0.000000	D	0.90126	0.6915	M	0.84326	2.69	0.49687	D	0.999813	P	0.42409	0.779	B	0.24269	0.052	D	0.87457	0.2405	10	0.87932	D	0	-25.2699	8.8868	0.35409	0.0:0.7701:0.0:0.2299	.	496	P54098	DPOG1_HUMAN	N	496	ENSP00000268124:K496N;ENSP00000399851:K496N	ENSP00000268124:K496N	K	-	3	2	POLG	87671244	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.140000	0.31516	0.581000	0.29539	0.484000	0.47621	AAG	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub	ENSG00000140521		0.572	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	77	0.00	0	C	NM_002693		89870240	89870240	-1	no_errors	ENST00000268124	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	1.000	A
POTEE	445582	genome.wustl.edu	37	2	132021475	132021475	+	Missense_Mutation	SNP	G	G	A	rs11546936		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:132021475G>A	ENST00000356920.5	+	15	2541	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGGCCAACCGCGAGAAGATG	0.607																																						dbGAP											0													78.0	80.0	79.0					2																	132021475		2127	4190	6317	-	-	-	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2447G>A	2.37:g.132021475G>A	ENSP00000439189:p.Arg816His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.R816H	ENST00000356920.5	37	c.2447	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	18.42	3.621132	0.66787	.	.	ENSG00000188219	ENST00000356920	D	0.97066	-4.23	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98817	0.9601	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.96667	0.9493	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	rs11546936	816	Q6S8J3	POTEE_HUMAN	H	816	ENSP00000439189:R816H	ENSP00000439189:R816H	R	+	2	0	AC131180.1	131737945	1.000000	0.71417	0.216000	0.23742	0.219000	0.24729	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC	AC131180.1	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000188219		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		48	0.00	0	G	NM_001083538		132021475	132021475	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	missense	21	12.50	3	SNP	1.000	A
POU3F4	5456	genome.wustl.edu	37	X	82763876	82763876	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chrX:82763876G>T	ENST00000373200.2	+	1	608	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	182					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D182Y(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CCATTGCCAGGATCACTCCGA	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											31.0	30.0	30.0					X																	82763876		2203	4299	6502	-	-	-	SO:0001583	missense	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.544G>T	X.37:g.82763876G>T	ENSP00000362296:p.Asp182Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.D182Y	ENST00000373200.2	37	c.544	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637087	0.47049	.	.	ENSG00000196767	ENST00000373200	D	0.86164	-2.08	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	L	0.58810	1.83	0.58432	D	0.999999	D	0.54047	0.964	P	0.54460	0.753	D	0.91146	0.4949	10	0.66056	D	0.02	.	16.8831	0.86068	0.0:0.0:1.0:0.0	.	182	P49335	PO3F4_HUMAN	Y	182	ENSP00000362296:D182Y	ENSP00000362296:D182Y	D	+	1	0	POU3F4	82650532	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	7.098000	0.76974	2.357000	0.79964	0.525000	0.51046	GAT	POU3F4	-	pirsf_Transcription_factor_POU	ENSG00000196767		0.602	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	118	0.00	0	G	NM_000307		82763876	82763876	+1	no_errors	ENST00000373200	ensembl	human	known	69_37n	missense	80	17.53	17	SNP	1.000	T
PYHIN1	149628	genome.wustl.edu	37	1	158912052	158912052	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:158912052G>T	ENST00000368140.1	+	5	1110	c.865G>T	c.(865-867)Gta>Tta	p.V289L	PYHIN1_ENST00000392254.2_Missense_Mutation_p.V289L|PYHIN1_ENST00000392252.3_Missense_Mutation_p.V280L|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.V280L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	289	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.V289L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGCCTCTTCTGTATCTGAAGC	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											48.0	49.0	48.0					1																	158912052		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.865G>T	1.37:g.158912052G>T	ENSP00000357122:p.Val289Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.V289L	ENST00000368140.1	37	c.865	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938165	0.52972	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	2.85	2.85	0.33270	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.37652	0.1011	M	0.81682	2.555	0.27610	N	0.948702	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	T	0.06499	-1.0823	9	0.87932	D	0	.	9.2705	0.37668	0.0:0.0:1.0:0.0	.	280;289;280;289	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	L	289;280;289;280	ENSP00000357122:V289L;ENSP00000357120:V280L;ENSP00000376083:V289L;ENSP00000376082:V280L	ENSP00000357120:V280L	V	+	1	0	PYHIN1	157178676	0.498000	0.26075	0.014000	0.15608	0.217000	0.24651	3.682000	0.54656	1.577000	0.49804	0.655000	0.94253	GTA	PYHIN1	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163564		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	96	0.00	0	G	NM_152501		158912052	158912052	+1	no_errors	ENST00000368140	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.017	T
RGS14	10636	genome.wustl.edu	37	5	176793928	176793928	+	Silent	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr5:176793928C>T	ENST00000408923.3	+	5	564	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	126	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)	p.L126L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGAGTTCCTGTCCAGCCA	0.662																																					NSCLC(47;353 1896 28036)	dbGAP											1	Substitution - coding silent(1)	breast(1)											34.0	40.0	38.0					5																	176793928		1974	4168	6142	-	-	-	SO:0001819	synonymous_variant	0			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.376C>T	5.37:g.176793928C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L126	ENST00000408923.3	37	c.376	CCDS43405.1	5																																																																																			RGS14	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000169220		0.662	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	70	0.00	0	C	NM_006480		176793928	176793928	+1	no_errors	ENST00000408923	ensembl	human	known	69_37n	silent	18	40.00	12	SNP	1.000	T
RNF111	54778	genome.wustl.edu	37	15	59368377	59368380	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	CTCT	CTCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr15:59368377_59368380delCTCT	ENST00000557998.1	+	7	2198_2201	c.1911_1914delCTCT	c.(1909-1914)ccctctfs	p.PS637fs	RNF111_ENST00000559209.1_Frame_Shift_Del_p.PS637fs|RNF111_ENST00000348370.4_Frame_Shift_Del_p.PS637fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.PS637fs|RNF111_ENST00000434298.1_Frame_Shift_Del_p.PS637fs	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	637	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L639fs*14(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTCCACAGCCCTCTCTCTCATCAT	0.485																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											2	Deletion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1911_1914delCTCT	15.37:g.59368381_59368384delCTCT	ENSP00000452732:p.Pro637fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L639fs	ENST00000557998.1	37	c.1911_1914	CCDS58366.1	15																																																																																			RNF111	-	NULL	ENSG00000157450		0.485	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	121	0.00	0	CTCT	NM_017610		59368377	59368380	+1	no_errors	ENST00000434298	ensembl	human	known	69_37n	frame_shift_del	102	18.75	24	DEL	0.975:0.997:1.000:0.991	-
RNF123	63891	genome.wustl.edu	37	3	49736199	49736199	+	Frame_Shift_Del	DEL	G	G	-	rs143394687		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr3:49736199delG	ENST00000327697.6	+	9	726	c.582delG	c.(580-582)gcgfs	p.A194fs	RNF123_ENST00000432042.1_Frame_Shift_Del_p.A48fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	194	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CGTGGGCAGCGGGGGACATCG	0.612																																						dbGAP											0													69.0	59.0	62.0					3																	49736199		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.582delG	3.37:g.49736199delG	ENSP00000328287:p.Ala194fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.D196fs	ENST00000327697.6	37	c.582	CCDS33758.1	3																																																																																			RNF123	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000164068		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	75	0.00	0	G	NM_022064		49736199	49736199	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	frame_shift_del	12	33.33	6	DEL	0.960	-
RPIA	22934	genome.wustl.edu	37	2	89034083	89034083	+	Silent	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:89034083C>T	ENST00000283646.4	+	5	532	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	159					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.I159I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ACCTTGCCATCGATGGTGCTG	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											142.0	134.0	137.0					2																	89034083		1959	4153	6112	-	-	-	SO:0001819	synonymous_variant	0			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.477C>T	2.37:g.89034083C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q541P9|Q96BJ6	Silent	SNP	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	p.I159	ENST00000283646.4	37	c.477	CCDS2004.2	2																																																																																			RPIA	-	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	ENSG00000153574		0.488	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPIA	HGNC	protein_coding	OTTHUMT00000252683.2	554	0.00	0	C			89034083	89034083	+1	no_errors	ENST00000283646	ensembl	human	known	69_37n	silent	252	25.81	88	SNP	0.980	T
SBF2	81846	genome.wustl.edu	37	11	10015496	10015496	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:10015496C>T	ENST00000256190.8	-	10	1162	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	342					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R342Q(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TAAAGCTGTTCGTGGAGGAGG	0.294																																						dbGAP											1	Substitution - Missense(1)	breast(1)											59.0	62.0	61.0					11																	10015496		2201	4294	6495	-	-	-	SO:0001583	missense	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1025G>A	11.37:g.10015496C>T	ENSP00000256190:p.Arg342Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R342Q	ENST00000256190.8	37	c.1025	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687499	0.68157	.	.	ENSG00000133812	ENST00000256190	D	0.85556	-2.0	5.53	5.53	0.82687	.	0.078120	0.53938	D	0.000047	T	0.80476	0.4630	L	0.46157	1.445	0.80722	D	1	B	0.29862	0.259	B	0.23852	0.049	T	0.76479	-0.2944	10	0.13108	T	0.6	.	19.0862	0.93203	0.0:1.0:0.0:0.0	.	342	Q86WG5	MTMRD_HUMAN	Q	342	ENSP00000256190:R342Q	ENSP00000256190:R342Q	R	-	2	0	SBF2	9972072	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.042000	0.70996	2.603000	0.88011	0.650000	0.86243	CGA	SBF2	-	NULL	ENSG00000133812		0.294	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	193	0.00	0	C	NM_030962		10015496	10015496	-1	no_errors	ENST00000256190	ensembl	human	known	69_37n	missense	95	14.41	16	SNP	1.000	T
SH3TC1	54436	genome.wustl.edu	37	4	8224596	8224596	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr4:8224596A>C	ENST00000245105.3	+	10	1209	c.1142A>C	c.(1141-1143)gAa>gCa	p.E381A	SH3TC1_ENST00000539824.1_Missense_Mutation_p.E305A	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	381								p.E381A(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCAATGAGGAAGAAAAGTCA	0.453																																					NSCLC(145;2298 2623 35616 37297)	dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	66.0	67.0					4																	8224596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1142A>C	4.37:g.8224596A>C	ENSP00000245105:p.Glu381Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.E381A	ENST00000245105.3	37	c.1142	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900883	0.33535	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	D;D;T	0.82255	-1.59;-1.55;0.17	4.31	3.12	0.35913	.	0.217661	0.37857	N	0.001909	D	0.88001	0.6320	M	0.71206	2.165	0.37697	D	0.924054	D	0.71674	0.998	D	0.67725	0.953	D	0.88261	0.2923	10	0.87932	D	0	-6.2877	8.6791	0.34198	0.9086:0.0:0.0914:0.0	.	381	Q8TE82	S3TC1_HUMAN	A	119;381;305;210;163	ENSP00000245105:E381A;ENSP00000441045:E305A;ENSP00000426035:E163A	ENSP00000245105:E381A	E	+	2	0	SH3TC1	8275496	0.994000	0.37717	0.024000	0.17045	0.062000	0.15995	3.219000	0.51200	0.553000	0.29044	0.459000	0.35465	GAA	SH3TC1	-	NULL	ENSG00000125089		0.453	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	88	0.00	0	A	NM_018986		8224596	8224596	+1	no_errors	ENST00000245105	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.939	C
SLC16A14	151473	genome.wustl.edu	37	2	230924025	230924026	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:230924025_230924026insG	ENST00000295190.4	-	2	501_502	c.43_44insC	c.(43-45)ggcfs	p.G15fs	RNY4P19_ENST00000362530.1_RNA	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTCTTTGGGGCCATCTTCAAAA	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.43_44insC	2.37:g.230924025_230924026insG	ENSP00000295190:p.Gly15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA08|Q53R92|Q96NI7	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G15fs	ENST00000295190.4	37	c.44_43	CCDS2473.1	2																																																																																			SLC16A14	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000163053		0.391	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	228	0.00	0	-	NM_152527		230924025	230924026	-1	no_errors	ENST00000295190	ensembl	human	known	69_37n	frame_shift_ins	93	29.55	39	INS	0.969:1.000	G
SLC25A2	83884	genome.wustl.edu	37	5	140683389	140683389	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr5:140683389G>A	ENST00000239451.4	-	1	223	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	15					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.A15V(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGCGGCCCCCGCTGTGAGGTC	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											44.0	46.0	45.0					5																	140683389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.44C>T	5.37:g.140683389G>A	ENSP00000239451:p.Ala15Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A15V	ENST00000239451.4	37	c.44	CCDS4258.1	5	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803561	0.50315	.	.	ENSG00000120329	ENST00000239451	D	0.82081	-1.57	4.27	3.39	0.38822	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	D	0.91523	0.7323	M	0.92122	3.275	0.47308	D	0.999389	D	0.69078	0.997	D	0.65684	0.937	D	0.92302	0.5850	10	0.87932	D	0	-17.268	10.8236	0.46619	0.0984:0.0:0.9016:0.0	.	15	Q9BXI2	ORNT2_HUMAN	V	15	ENSP00000239451:A15V	ENSP00000239451:A15V	A	-	2	0	SLC25A2	140663573	0.197000	0.23362	0.712000	0.30502	0.319000	0.28217	3.134000	0.50538	1.099000	0.41499	0.484000	0.47621	GCG	SLC25A2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000120329		0.607	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A2	HGNC	protein_coding	OTTHUMT00000251799.2	68	0.00	0	G	NM_031947		140683389	140683389	-1	no_errors	ENST00000239451	ensembl	human	known	69_37n	missense	8	73.33	22	SNP	0.632	A
SLCO2B1	11309	genome.wustl.edu	37	11	74880325	74880325	+	Missense_Mutation	SNP	C	C	A	rs201849801		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:74880325C>A	ENST00000289575.5	+	5	951	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.L70M|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.L42M|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.L164M	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	186					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L186M(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	AACCCAGCATCTGAGTGTGGT	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											82.0	81.0	81.0					11																	74880325		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.556C>A	11.37:g.74880325C>A	ENSP00000289575:p.Leu186Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L186M	ENST00000289575.5	37	c.556	CCDS8235.1	11	.	.	.	.	.	.	.	.	.	.	C	6.558	0.471280	0.12461	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.07	0.587	0.17439	Major facilitator superfamily domain, general substrate transporter (1);	1.277870	0.05118	N	0.490171	T	0.31071	0.0785	L	0.48362	1.52	0.20074	N	0.999938	P;B	0.35468	0.503;0.202	B;B	0.30029	0.11;0.077	T	0.21245	-1.0251	10	0.34782	T	0.22	.	3.1365	0.06441	0.1791:0.4187:0.3087:0.0936	.	42;186	E9PPU8;O94956	.;SO2B1_HUMAN	M	186;70;42;164;62	ENSP00000289575:L186M;ENSP00000434112:L70M;ENSP00000436324:L42M;ENSP00000388912:L164M;ENSP00000434742:L62M	ENSP00000289575:L186M	L	+	1	2	SLCO2B1	74557973	0.000000	0.05858	0.084000	0.20598	0.096000	0.18686	0.159000	0.16442	0.281000	0.22233	-0.182000	0.12963	CTG	SLCO2B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000137491		0.612	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	HGNC	protein_coding	OTTHUMT00000383933.1	62	0.00	0	C	NM_007256		74880325	74880325	+1	no_errors	ENST00000289575	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	0.005	A
SPATA13	221178	genome.wustl.edu	37	13	24858359	24858359	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr13:24858359G>T	ENST00000382095.4	+	4	783	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	SPATA13_ENST00000409126.1_Missense_Mutation_p.A48S|SPATA13_ENST00000382108.3_Missense_Mutation_p.A751S|SPATA13_ENST00000343003.6_Missense_Mutation_p.A70S|SPATA13_ENST00000424834.2_Missense_Mutation_p.A751S|SPATA13_ENST00000399949.2_Missense_Mutation_p.A48S|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.A629S	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	126	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.A751S(1)|p.A126S(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		cctctgccagGCCAGCCCTCG	0.527																																						dbGAP											2	Substitution - Missense(2)	breast(2)											55.0	48.0	50.0					13																	24858359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.376G>T	13.37:g.24858359G>T	ENSP00000371527:p.Ala126Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A751S	ENST00000382095.4	37	c.2251	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.050734|3.050734	0.55218|0.55218	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083|ENST00000424834	T;T;T;T;T;T;T|.	0.78003|.	-0.8;-0.52;-1.14;-0.55;-1.1;-0.62;-0.51|.	5.65|5.65	3.81|3.81	0.43845|0.43845	.|.	0.324689|.	0.34555|.	N|.	0.003863|.	T|T	0.40595|0.40595	0.1123|0.1123	L|L	0.29908|0.29908	0.895|0.895	0.32854|0.32854	D|D	0.50699|0.50699	B;B;B;B;B;B|.	0.29988|.	0.172;0.004;0.264;0.007;0.002;0.004|.	B;B;B;B;B;B|.	0.28011|.	0.039;0.008;0.085;0.011;0.028;0.004|.	T|T	0.50996|0.50996	-0.8761|-0.8761	10|5	0.02654|.	T|.	1|.	.|.	10.4688|10.4688	0.44624|0.44624	0.0729:0.1339:0.7931:0.0|0.0729:0.1339:0.7931:0.0	.|.	48;70;72;72;48;126|.	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96|.	.;.;.;.;.;SPT13_HUMAN|.	S|V	751;126;86;72;48;48;70;70|788	ENSP00000371542:A751S;ENSP00000371527:A126S;ENSP00000401605:A86S;ENSP00000382830:A48S;ENSP00000386471:A48S;ENSP00000343631:A70S;ENSP00000397498:A70S|.	ENSP00000343631:A70S|.	A|G	+|+	1|2	0|0	SPATA13|SPATA13	23756359|23756359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.779000|2.779000	0.47734|0.47734	1.532000|1.532000	0.49169|0.49169	0.655000|0.655000	0.94253|0.94253	GCC|GGC	SPATA13	-	NULL	ENSG00000182957		0.527	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	70	0.00	0	G	NM_153023		24858359	24858359	+1	no_errors	ENST00000382108	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	T
SPTA1	6708	genome.wustl.edu	37	1	158583632	158583632	+	Missense_Mutation	SNP	G	G	T	rs553043635		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr1:158583632G>T	ENST00000368147.4	-	50	7048	c.6868C>A	c.(6868-6870)Cgc>Agc	p.R2290S	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2290	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2290S(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGTCAGGCGCCCTGTCAAA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											49.0	46.0	47.0					1																	158583632		1851	4090	5941	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6868C>A	1.37:g.158583632G>T	ENSP00000357129:p.Arg2290Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R2290S	ENST00000368147.4	37	c.6868	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.105704	0.56291	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.22134	1.97;1.97	5.21	4.26	0.50523	EF-hand-like domain (1);	0.287778	0.18957	N	0.126516	T	0.22820	0.0551	L	0.32530	0.975	0.37808	D	0.927936	D	0.61080	0.989	P	0.62298	0.9	T	0.01048	-1.1469	10	0.62326	D	0.03	.	14.0545	0.64759	0.0:0.0:0.8492:0.1508	.	2290	P02549	SPTA1_HUMAN	S	2290;2287	ENSP00000357130:R2290S;ENSP00000357129:R2287S	ENSP00000357129:R2287S	R	-	1	0	SPTA1	156850256	1.000000	0.71417	0.937000	0.37676	0.840000	0.47671	5.644000	0.67902	2.720000	0.93068	0.650000	0.86243	CGC	SPTA1	-	pfscan_EF_HAND_2	ENSG00000163554		0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	144	0.00	0	G	NM_003126		158583632	158583632	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	81	33.61	41	SNP	0.979	T
SPTBN4	57731	genome.wustl.edu	37	19	41008789	41008789	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr19:41008789G>A	ENST00000352632.3	+	11	1397	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	SPTBN4_ENST00000338932.3_Silent_p.K437K|SPTBN4_ENST00000595535.1_Silent_p.K437K|SPTBN4_ENST00000344104.3_Silent_p.K437K|SPTBN4_ENST00000598249.1_Silent_p.K437K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	437					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.K437K(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTGACCACAAGGTGGCTATGA	0.607																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											100.0	102.0	101.0					19																	41008789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1311G>A	19.37:g.41008789G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.K437	ENST00000352632.3	37	c.1311	CCDS12559.1	19																																																																																			SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.607	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	58	0.00	0	G			41008789	41008789	+1	no_errors	ENST00000352632	ensembl	human	known	69_37n	silent	24	27.27	9	SNP	1.000	A
SRPX	8406	genome.wustl.edu	37	X	38016148	38016148	+	Splice_Site	SNP	C	C	G			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chrX:38016148C>G	ENST00000378533.3	-	8	1196		c.e8+1		SRPX_ENST00000343800.6_Splice_Site|SRPX_ENST00000538295.1_Splice_Site|SRPX_ENST00000479015.1_Splice_Site|SRPX_ENST00000432886.2_Splice_Site|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Splice_Site	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked						autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CGAGGACTCACCTGCAGCATT	0.522																																						dbGAP											1	Unknown(1)	breast(1)											59.0	43.0	49.0					X																	38016148		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1089+1G>C	X.37:g.38016148C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Splice_Site	SNP	-	e8+1	ENST00000378533.3	37	c.1089+1	CCDS14245.1	X	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012505	0.75161	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	.	.	.	5.86	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8841	0.63698	0.0:0.925:0.0:0.075	.	.	.	.	.	-1	.	.	.	-	.	.	SRPX	37901092	1.000000	0.71417	0.987000	0.45799	0.905000	0.53344	7.442000	0.80503	1.213000	0.43380	0.600000	0.82982	.	SRPX	-	-	ENSG00000101955		0.522	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	138	0.00	0	C	NM_006307	Intron	38016148	38016148	-1	no_errors	ENST00000378533	ensembl	human	known	69_37n	splice_site	113	10.32	13	SNP	1.000	G
SUFU	51684	genome.wustl.edu	37	10	104356987	104356987	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr10:104356987G>A	ENST00000369902.3	+	7	1013	c.847G>A	c.(847-849)Gag>Aag	p.E283K	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.E283K|SUFU_ENST00000423559.2_Missense_Mutation_p.E283K	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	283					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E283K(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CCGGCCCCCCGAGGATGACGA	0.602			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP	yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	1	Substitution - Missense(1)	breast(1)											97.0	90.0	93.0					10																	104356987		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.847G>A	10.37:g.104356987G>A	ENSP00000358918:p.Glu283Lys	Somatic	1381	WXS	Illumina GAIIx	Phase_IV	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.E283K	ENST00000369902.3	37	c.847	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303464	0.81136	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.45276	0.9;0.9;0.9	6.03	6.03	0.97812	Suppressor of fused C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.47716	1.5	0.80722	D	1	D;D;P	0.67145	0.996;0.995;0.645	D;D;B	0.74348	0.983;0.97;0.071	T	0.39418	-0.9615	10	0.07813	T	0.8	-16.8043	20.5568	0.99304	0.0:0.0:1.0:0.0	.	283;283;283	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	K	283	ENSP00000358918:E283K;ENSP00000358915:E283K;ENSP00000411597:E283K	ENSP00000358915:E283K	E	+	1	0	SUFU	104346977	1.000000	0.71417	0.987000	0.45799	0.922000	0.55478	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAG	SUFU	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_protein	ENSG00000107882		0.602	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	71	0.00	0	G	NM_016169		104356987	104356987	+1	no_errors	ENST00000369902	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	1.000	A
SYNPO2	171024	genome.wustl.edu	37	4	119944647	119944647	+	Silent	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr4:119944647C>T	ENST00000429713.2	+	2	350	c.168C>T	c.(166-168)atC>atT	p.I56I	SYNPO2_ENST00000448416.2_Silent_p.I56I|SYNPO2_ENST00000434046.2_Silent_p.I56I|SYNPO2_ENST00000307142.4_Silent_p.I56I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	56	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.I56I(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGTTTCCATCAATGGCAACC	0.438																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											141.0	115.0	124.0					4																	119944647		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.168C>T	4.37:g.119944647C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Nonsense_Mutation	SNP	superfamily_PDZ,pfscan_PDZ	p.Q8*	ENST00000429713.2	37	c.22	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488587	0.26686	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.0087	17.9264	0.88985	0.0:1.0:0.0:0.0	.	.	.	.	X	8	.	.	Q	+	1	0	SYNPO2	120164095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.303000	0.43646	2.654000	0.90174	0.650000	0.86243	CAA	SYNPO2	-	superfamily_PDZ,pfscan_PDZ	ENSG00000172403		0.438	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	131	0.00	0	C			119944647	119944647	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000504178	ensembl	human	novel	69_37n	nonsense	90	16.67	18	SNP	1.000	T
TRIM28	10155	genome.wustl.edu	37	19	59059870	59059870	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr19:59059870C>T	ENST00000253024.5	+	9	1523	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	TRIM28_ENST00000341753.6_Missense_Mutation_p.R330C	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	412					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R412C(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGTGGCAGAGCGTCCTGGCAC	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											93.0	96.0	95.0					19																	59059870		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1234C>T	19.37:g.59059870C>T	ENSP00000253024:p.Arg412Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R412C	ENST00000253024.5	37	c.1234	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813667	0.50527	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.68479	-0.13;-0.33	5.12	4.02	0.46733	.	0.098434	0.47852	D	0.000204	T	0.63070	0.2480	N	0.08118	0	0.47862	D	0.999539	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.985;0.99	T	0.66424	-0.5927	10	0.59425	D	0.04	-26.0996	10.4166	0.44325	0.1945:0.8055:0.0:0.0	.	330;412;412	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	C	412;330	ENSP00000253024:R412C;ENSP00000342232:R330C	ENSP00000253024:R412C	R	+	1	0	TRIM28	63751682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.341000	0.33907	2.837000	0.97791	0.655000	0.94253	CGT	TRIM28	-	NULL	ENSG00000130726		0.587	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	25	0.00	0	C	NM_005762		59059870	59059870	+1	no_errors	ENST00000253024	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	T
TRIM6	117854	genome.wustl.edu	37	11	5624497	5624497	+	5'UTR	SNP	C	C	G			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:5624497C>G	ENST00000278302.5	+	0	95				TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000380107.1_5'UTR|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000380097.3_Missense_Mutation_p.I13M|TRIM6_ENST00000445329.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.I13M|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.I13M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGGAAACATCTTAGAAATCA	0.488																																						dbGAP											2	Substitution - Missense(2)	breast(2)											83.0	69.0	74.0					11																	5624497		2201	4297	6498	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-46C>G	11.37:g.5624497C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.I13M	ENST00000278302.5	37	c.39	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	C	9.803	1.180964	0.21787	.	.	ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000380097;ENST00000337072;ENST00000354852	T;T	0.66460	-0.03;-0.21	4.03	3.12	0.35913	.	.	.	.	.	T	0.43897	0.1268	N	0.14661	0.345	0.09310	N	1	P;P	0.39964	0.697;0.681	B;B	0.35353	0.201;0.149	T	0.30880	-0.9963	9	0.54805	T	0.06	.	5.2559	0.15546	0.2005:0.695:0.0:0.1045	.	13;13	B2RNG4;Q9C030-2	.;.	M	13	ENSP00000369440:I13M;ENSP00000346916:I13M	ENSP00000369440:I13M	I	+	3	3	TRIM34;TRIM6;TRIM6-TRIM34	5581073	0.000000	0.05858	0.021000	0.16686	0.017000	0.09413	0.386000	0.20702	1.278000	0.44430	-0.150000	0.13652	ATC	TRIM34	-	NULL	ENSG00000258659		0.488	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	175	0.57	1	C	NM_001003818		5624497	5624497	+1	no_errors	ENST00000337072	ensembl	human	known	69_37n	missense	57	25.97	20	SNP	0.009	G
TTN	7273	genome.wustl.edu	37	2	179403912	179403912	+	Missense_Mutation	SNP	G	G	A	rs561932256		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:179403912G>A	ENST00000591111.1	-	303	94051	c.93827C>T	c.(93826-93828)tCc>tTc	p.S31276F	TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24044F|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23977F|TTN_ENST00000460472.2_Missense_Mutation_p.S23852F|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S32917F|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S30349F|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31276	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S23852F(1)|p.S24044F(1)|p.S30349F(1)|p.S23977F(1)|p.S30347F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGGGACCAGGACAAGCTAAC	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19902	0.0		0.0	False		,,,				2504	0.0					dbGAP											5	Substitution - Missense(5)	breast(5)											144.0	135.0	138.0					2																	179403912		1962	4149	6111	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93827C>T	2.37:g.179403912G>A	ENSP00000465570:p.Ser31276Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S30349F	ENST00000591111.1	37	c.91046		2	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651766	0.67472	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81545	0.4845	M	0.88704	2.975	0.53688	D	0.999974	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.75020	0.972;0.972;0.972;0.985	T	0.83092	-0.0132	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	23852;23977;24044;31276	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30349;23852;24044;23977;23849	ENSP00000343764:S30349F;ENSP00000434586:S23852F;ENSP00000340554:S24044F;ENSP00000352154:S23977F	ENSP00000340554:S24044F	S	-	2	0	TTN	179112158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.617000	0.74210	2.941000	0.99782	0.655000	0.94253	TCC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	302	0.00	0	G	NM_133378		179403912	179403912	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	135	33.50	68	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179444429	179444429	+	Nonsense_Mutation	SNP	G	G	A	rs574660186		TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr2:179444429G>A	ENST00000591111.1	-	269	62796	c.62572C>T	c.(62572-62574)Cga>Tga	p.R20858*	TTN_ENST00000342175.6_Nonsense_Mutation_p.R13626*|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R13559*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R13434*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R22499*|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R19931*			Q8WZ42	TITIN_HUMAN	titin	20858	Fibronectin type-III 51. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R13434*(1)|p.R13626*(1)|p.R19931*(1)|p.R13559*(1)|p.R19929*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATAACTCGTTGCCACTTA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		21219	0.0		0.001	False		,,,				2504	0.0					dbGAP											5	Substitution - Nonsense(5)	breast(5)											119.0	110.0	113.0					2																	179444429		1887	4103	5990	-	-	-	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62572C>T	2.37:g.179444429G>A	ENSP00000465570:p.Arg20858*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R19931*	ENST00000591111.1	37	c.59791		2	.	.	.	.	.	.	.	.	.	.	G	61	60.841245	0.99990	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.09310	A	1e-37	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4317	0.44411	0.0:0.2623:0.619:0.1187	.	.	.	.	X	19931;13434;13626;13559;13432	.	ENSP00000340554:R13626X	R	-	1	2	TTN	179152675	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	1.468000	0.35332	1.446000	0.47643	-0.261000	0.10672	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	120	0.00	0	G	NM_133378		179444429	179444429	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	nonsense	73	25.51	25	SNP	1.000	A
TUB	7275	genome.wustl.edu	37	11	8060462	8060462	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr11:8060462C>A	ENST00000305253.4	+	1	283	c.42C>A	c.(40-42)ttC>ttA	p.F14L	RP11-236J17.6_ENST00000528151.1_RNA|TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000526646.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.F14L(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGGTTTCTTTCTTTGCCGAGA	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											144.0	138.0	140.0					11																	8060462		2201	4296	6497	-	-	-	SO:0001583	missense	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.42C>A	11.37:g.8060462C>A	ENSP00000305426:p.Phe14Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.F14L	ENST00000305253.4	37	c.42	CCDS7786.1	11	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026918	0.35797	.	.	ENSG00000166402	ENST00000305253	D	0.84944	-1.92	4.93	1.35	0.21983	.	2.520680	0.01535	N	0.018954	T	0.65133	0.2662	.	.	.	0.34027	D	0.653381	B	0.02656	0.0	B	0.01281	0.0	T	0.67011	-0.5778	9	0.02654	T	1	-14.3464	1.7666	0.03003	0.1965:0.4729:0.191:0.1396	.	14	P50607-2	.	L	14	ENSP00000305426:F14L	ENSP00000305426:F14L	F	+	3	2	TUB	8017038	0.026000	0.19158	0.228000	0.23943	0.975000	0.68041	-0.082000	0.11304	0.575000	0.29434	0.563000	0.77884	TTC	TUB	-	NULL	ENSG00000166402		0.562	TUB-002	KNOWN	basic|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385822.1	248	0.00	0	C	NM_003320		8060462	8060462	+1	no_errors	ENST00000305253	ensembl	human	known	69_37n	missense	127	17.53	27	SNP	0.042	A
UTRN	7402	genome.wustl.edu	37	6	145095471	145095471	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr6:145095471A>C	ENST00000367545.3	+	59	8603	c.8603A>C	c.(8602-8604)aAa>aCa	p.K2868T	UTRN_ENST00000367526.4_Missense_Mutation_p.K423T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2868	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K2868T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACAGCAATCAAAATCCGAAGA	0.308																																						dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	103.0	104.0					6																	145095471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8603A>C	6.37:g.145095471A>C	ENSP00000356515:p.Lys2868Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.K2868T	ENST00000367545.3	37	c.8603	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887456	0.91814	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.81078	-1.45;-1.45	5.93	5.93	0.95920	EF-hand domain, type 1 (1);	0.000000	0.53938	D	0.000054	D	0.90776	0.7104	M	0.91818	3.245	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	D	0.92773	0.6234	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	2868	P46939	UTRO_HUMAN	T	2868;423	ENSP00000356515:K2868T;ENSP00000356496:K423T	ENSP00000356496:K423T	K	+	2	0	UTRN	145137164	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	AAA	UTRN	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin	ENSG00000152818		0.308	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	362	0.28	1	A			145095471	145095471	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	144	41.70	103	SNP	1.000	C
WDR13	64743	genome.wustl.edu	37	X	48457035	48457035	+	Intron	DEL	C	C	-			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chrX:48457035delC	ENST00000218056.5	+	2	546				WDR13_ENST00000376729.5_Intron|WDR13_ENST00000492715.1_3'UTR	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	18	0.00	0	C			48457035	48457035	+1	no_errors	ENST00000479279	ensembl	human	known	69_37n	rna	6	25.00	2	DEL	0.000	-
ZBBX	79740	genome.wustl.edu	37	3	167083758	167083758	+	Silent	SNP	G	G	A	rs528713569	byFrequency	TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr3:167083758G>A	ENST00000392766.2	-	6	529	c.189C>T	c.(187-189)agC>agT	p.S63S	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Silent_p.S34S|ZBBX_ENST00000307529.5_Silent_p.S63S|ZBBX_ENST00000392767.2_Silent_p.S63S|ZBBX_ENST00000455345.2_Silent_p.S63S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	63						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S63S(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGTAATACTCGCTTGACCTTT	0.294													G|||	2	0.000399361	0.0	0.0	5008	,	,		16200	0.002		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - coding silent(2)	breast(2)											87.0	80.0	82.0					3																	167083758		1809	4057	5866	-	-	-	SO:0001819	synonymous_variant	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.189C>T	3.37:g.167083758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.S63	ENST00000392766.2	37	c.189	CCDS3199.2	3																																																																																			ZBBX	-	NULL	ENSG00000169064		0.294	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	159	0.00	0	G	NM_024687		167083758	167083758	-1	no_errors	ENST00000307529	ensembl	human	known	69_37n	silent	53	29.33	22	SNP	0.995	A
ZNF536	9745	genome.wustl.edu	37	19	31048070	31048070	+	Silent	SNP	G	G	A			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr19:31048070G>A	ENST00000355537.3	+	5	4049	c.3902G>A	c.(3901-3903)tGa>tAa	p.*1301*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	0					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.*1301*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGGTAAGTGACACTCCCTG	0.463																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											343.0	288.0	306.0					19																	31048070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3902G>A	19.37:g.31048070G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.*1301	ENST00000355537.3	37	c.3902	CCDS32984.1	19																																																																																			ZNF536	-	NULL	ENSG00000198597		0.463	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	319	0.00	0	G	NM_014717		31048070	31048070	+1	no_errors	ENST00000355537	ensembl	human	known	69_37n	silent	63	36.36	36	SNP	1.000	A
ZFP28	140612	genome.wustl.edu	37	19	57066677	57066677	+	Silent	SNP	A	A	G			TCGA-AO-A0J3-01A-11W-A050-09	TCGA-AO-A0J3-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ff706355-867e-4968-99ad-0af4e24ece51	ac697d39-8c85-4acf-8ca9-fe8cb8cc77f8	g.chr19:57066677A>G	ENST00000301318.3	+	8	2594	c.2523A>G	c.(2521-2523)acA>acG	p.T841T	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	841					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T841T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGTCGTCAACATGCCCCTCTT	0.448																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											1	Substitution - coding silent(1)	breast(1)											326.0	318.0	321.0					19																	57066677		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2523A>G	19.37:g.57066677A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	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.T841	ENST00000301318.3	37	c.2523	CCDS12946.1	19																																																																																			ZFP28	-	NULL	ENSG00000196867		0.448	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	374	0.00	0	A	NM_020828		57066677	57066677	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	silent	79	50.00	80	SNP	0.000	G
