#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
ANKS1B	56899	genome.wustl.edu	37	12	100206055	100206055	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr12:100206055A>C	ENST00000547776.2	-	3	249	c.250T>G	c.(250-252)Tca>Gca	p.S84A	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S84A	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	84						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACATTTGTTGATGCCTCATAC	0.368																																						dbGAP											0													82.0	84.0	83.0					12																	100206055		1875	4096	5971	-	-	-	SO:0001583	missense	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.250T>G	12.37:g.100206055A>C	ENSP00000449629:p.Ser84Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S84A	ENST00000547776.2	37	c.250	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495125	0.44352	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.71934	-0.12;-0.12;-0.61	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.088345	0.47455	D	0.000226	T	0.60805	0.2297	L	0.35854	1.095	0.80722	D	1	B;B	0.33637	0.42;0.213	B;B	0.35240	0.198;0.137	T	0.58864	-0.7561	9	.	.	.	-7.2791	11.875	0.52541	0.8543:0.1457:0.0:0.0	.	84;84	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	A	84	ENSP00000449629:S84A;ENSP00000331381:S84A;ENSP00000449894:S84A	.	S	-	1	0	ANKS1B	98730186	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.054000	0.57434	2.156000	0.67533	0.533000	0.62120	TCA	ANKS1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185046		0.368	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	231	0.00	0	A	NM_020140		100206055	100206055	-1	no_errors	ENST00000329257	ensembl	human	known	69_37n	missense	326	19.85	81	SNP	0.932	C
APH1B	83464	genome.wustl.edu	37	15	63594553	63594553	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr15:63594553C>T	ENST00000261879.5	+	5	558	c.488C>T	c.(487-489)aCg>aTg	p.T163M	APH1B_ENST00000380343.4_Missense_Mutation_p.T122M|APH1B_ENST00000560716.1_3'UTR	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	163					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						GCTTTCATGACGCTGGTCATT	0.512																																						dbGAP											0													312.0	286.0	295.0					15																	63594553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.488C>T	15.37:g.63594553C>T	ENSP00000261879:p.Thr163Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	pfam_Aph-1	p.T163M	ENST00000261879.5	37	c.488	CCDS10184.1	15	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400757	0.83120	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.52057	0.68;0.68	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.88310	2.945	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.927	T	0.78468	-0.2192	10	0.87932	D	0	-3.3058	14.6498	0.68789	0.0:1.0:0.0:0.0	.	122;163	Q564N3;Q8WW43	.;APH1B_HUMAN	M	122;163	ENSP00000369700:T122M;ENSP00000261879:T163M	ENSP00000261879:T163M	T	+	2	0	APH1B	61381606	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.025000	0.70864	2.590000	0.87494	0.557000	0.71058	ACG	APH1B	-	pfam_Aph-1	ENSG00000138613		0.512	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APH1B	HGNC	protein_coding	OTTHUMT00000256337.1	227	0.00	0	C	NM_031301		63594553	63594553	+1	no_errors	ENST00000261879	ensembl	human	known	69_37n	missense	448	19.53	109	SNP	1.000	T
BEST1	7439	genome.wustl.edu	37	11	61727447	61727448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr11:61727447_61727448insC	ENST00000378043.4	+	9	1675_1676	c.1032_1033insC	c.(1033-1035)cccfs	p.P345fs	BEST1_ENST00000301774.9_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Frame_Shift_Ins_p.P285fs|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.P258fs|BEST1_ENST00000534553.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000526988.1_Frame_Shift_Ins_p.SP306fs|BEST1_ENST00000435278.2_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	345					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCGAGCCACAGCCCCCCTACAC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1038dupC	11.37:g.61727453_61727453dupC	ENSP00000367282:p.Pro345fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Frame_Shift_Ins	INS	pfam_Bestrophin/UPF0187	p.Y286fs	ENST00000378043.4	37	c.852_853	CCDS31580.1	11																																																																																			BEST1	-	NULL	ENSG00000167995		0.624	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	13	0.00	0	-	NM_004183		61727447	61727448	+1	no_errors	ENST00000449131	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.598:0.999	C
CACNA1A	773	genome.wustl.edu	37	19	13470592	13470592	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr19:13470592G>A	ENST00000360228.5	-	6	805	c.806C>T	c.(805-807)cCg>cTg	p.P269L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P269L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	269					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACATGGAGCCGGAGACTCACC	0.557																																						dbGAP											0													32.0	31.0	31.0					19																	13470592		1907	4089	5996	-	-	-	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.806C>T	19.37:g.13470592G>A	ENSP00000353362:p.Pro269Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.P269L	ENST00000360228.5	37	c.806	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564349	0.45694	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96685	-4.09	5.27	3.03	0.35002	Ion transport (1);	0.154543	0.44285	D	0.000471	D	0.95850	0.8649	L	0.46947	1.48	0.37387	D	0.912298	B;D	0.76494	0.047;0.999	B;D	0.67725	0.024;0.953	D	0.94623	0.7815	10	0.41790	T	0.15	.	5.8948	0.18933	0.0959:0.0:0.7152:0.1889	.	269;269	O00555;Q9NS88	CAC1A_HUMAN;.	L	269	ENSP00000353362:P269L	ENSP00000317661:P269L	P	-	2	0	CACNA1A	13331592	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.722000	0.61958	1.229000	0.43630	-0.136000	0.14681	CCG	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	18	0.00	0	G	NM_000068		13470592	13470592	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.971	A
CARS2	79587	genome.wustl.edu	37	13	111296764	111296765	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr13:111296764_111296765insA	ENST00000257347.4	-	13	1446_1447	c.1383_1384insT	c.(1381-1386)tttgaafs	p.E462fs	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	462					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCAACAGTTTCAAAAAACTGTT	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1384dupT	13.37:g.111296770_111296770dupA	ENSP00000257347:p.Glu462fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NI84|Q96IV4	Frame_Shift_Ins	INS	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	p.E461fs	ENST00000257347.4	37	c.1384_1383	CCDS9514.1	13																																																																																			CARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-synt	ENSG00000134905		0.401	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	HGNC	protein_coding	OTTHUMT00000045772.3	58	0.00	0	-	NM_024537		111296764	111296765	-1	no_errors	ENST00000257347	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.674:0.630	A
CEP192	55125	genome.wustl.edu	37	18	13049592	13049593	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr18:13049592_13049593GA>TT	ENST00000325971.8	+	14	2607_2608	c.1014_1015GA>TT	c.(1012-1017)caGAgg>caTTgg	p.338_339QR>HW	CEP192_ENST00000506447.1_Missense_Mutation_p.934_935QR>HW|CEP192_ENST00000430049.2_Missense_Mutation_p.459_460QR>HW			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	338					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGAAAATCAGAGGCAAAATGA	0.391																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		Exception_encountered	18.37:g.13049592_13049593delinsTT	ENSP00000317156:p.Q338_R339delinsHW	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.Q934H|p.R935W	ENST00000325971.8	37	c.2802|c.2803		18																																																																																			CEP192	-	NULL	ENSG00000101639		0.391	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		249|248	0.00	0	G|A	NM_032142		13049592|13049593	13049592|13049593	+1	no_errors	ENST00000506447	ensembl	human	known	69_37n	missense	191|190	53.07|53.43	216|218	SNP	0.021|0.024	T
CHD6	84181	genome.wustl.edu	37	20	40033794	40033794	+	Silent	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr20:40033794G>A	ENST00000373233.3	-	37	7764	c.7587C>T	c.(7585-7587)ccC>ccT	p.P2529P	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2529					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAACATCTGGGGCACAGCAG	0.572																																						dbGAP											0													77.0	69.0	72.0					20																	40033794		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7587C>T	20.37:g.40033794G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2529	ENST00000373233.3	37	c.7587	CCDS13317.1	20																																																																																			CHD6	-	NULL	ENSG00000124177		0.572	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	98	0.00	0	G			40033794	40033794	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	silent	113	34.68	60	SNP	1.000	A
CLIP1	6249	genome.wustl.edu	37	12	122848621	122848621	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr12:122848621G>A	ENST00000540338.1	-	3	732	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000537178.1_Missense_Mutation_p.L231F|CLIP1_ENST00000302528.7_Missense_Mutation_p.L231F|CLIP1_ENST00000358808.2_Missense_Mutation_p.L231F|CLIP1_ENST00000361654.4_Missense_Mutation_p.L231F			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	231					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)			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)		GTCTCCCCAAGAAACCGGACT	0.488																																						dbGAP											0													124.0	92.0	103.0					12																	122848621		2203	4300	6503	-	-	-	SO:0001583	missense	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.691C>T	12.37:g.122848621G>A	ENSP00000439093:p.Leu231Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.L231F	ENST00000540338.1	37	c.691	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548495	0.65311	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.81	4.9	0.64082	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	L	0.54908	1.71	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.765	D;D;D;P	0.91635	0.985;0.999;0.998;0.851	D	0.94317	0.7550	10	0.66056	D	0.02	-8.4099	11.8325	0.52303	0.0677:0.1237:0.8086:0.0	.	231;231;231;231	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	F	231;231;76;231;231;231;231	ENSP00000303585:L231F;ENSP00000351665:L231F;ENSP00000445531:L231F;ENSP00000439093:L231F;ENSP00000437786:L231F;ENSP00000441409:L231F	ENSP00000303585:L231F	L	-	1	0	CLIP1	121414574	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	5.250000	0.65432	1.403000	0.46800	0.557000	0.71058	CTT	CLIP1	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain	ENSG00000130779		0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	69	0.00	0	G	NM_002956		122848621	122848621	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	78	55.87	100	SNP	0.999	A
CLSTN2	64084	genome.wustl.edu	37	3	140277569	140277569	+	Silent	SNP	C	C	G			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr3:140277569C>G	ENST00000458420.3	+	12	2101	c.1911C>G	c.(1909-1911)ctC>ctG	p.L637L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	637					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGATCACCCTCCGGGGCACAG	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	dbGAP											0													74.0	72.0	73.0					3																	140277569		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1911C>G	3.37:g.140277569C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L637	ENST00000458420.3	37	c.1911	CCDS3112.1	3																																																																																			CLSTN2	-	NULL	ENSG00000158258		0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	90	0.00	0	C	NM_022131		140277569	140277569	+1	no_errors	ENST00000458420	ensembl	human	known	69_37n	silent	113	20.98	30	SNP	0.454	G
CNTN1	1272	genome.wustl.edu	37	12	41421662	41421662	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr12:41421662C>T	ENST00000551295.2	+	22	2831	c.2714C>T	c.(2713-2715)cCt>cTt	p.P905L	CNTN1_ENST00000347616.1_Missense_Mutation_p.P905L|CNTN1_ENST00000348761.2_Missense_Mutation_p.P894L|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	905	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCACAGCTCCTAGCCAGCCT	0.403																																						dbGAP											0													121.0	106.0	111.0					12																	41421662		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2714C>T	12.37:g.41421662C>T	ENSP00000447006:p.Pro905Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P905L	ENST00000551295.2	37	c.2714	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926189	0.92319	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.62364	0.03;0.03;0.03	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	D	0.84522	0.0628	10	0.87932	D	0	.	19.7567	0.96296	0.0:1.0:0.0:0.0	.	894;905	Q12860-2;Q12860	.;CNTN1_HUMAN	L	905;905;894	ENSP00000447006:P905L;ENSP00000325660:P905L;ENSP00000261160:P894L	ENSP00000325660:P905L	P	+	2	0	CNTN1	39707929	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	6.543000	0.73874	2.752000	0.94435	0.557000	0.71058	CCT	CNTN1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	92	0.00	0	C	NM_001843		41421662	41421662	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	missense	160	13.98	26	SNP	1.000	T
CPXM1	56265	genome.wustl.edu	37	20	2778613	2778613	+	Splice_Site	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr20:2778613C>T	ENST00000380605.2	-	5	746		c.e5+1			NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGACCACTCACTGCGTCCATC	0.587																																						dbGAP											0													133.0	105.0	114.0					20																	2778613		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.681+1G>A	20.37:g.2778613C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G8|Q6UW65|Q9NUB5	Splice_Site	SNP	-	e5+1	ENST00000380605.2	37	c.681+1	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	C	9.668	1.145846	0.21288	.	.	ENSG00000088882	ENST00000380605	.	.	.	5.38	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8435	0.63453	0.0:0.8455:0.1545:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPXM1	2726613	0.995000	0.38212	0.712000	0.30502	0.004000	0.04260	4.891000	0.63185	1.259000	0.44117	-0.175000	0.13238	.	CPXM1	-	-	ENSG00000088882		0.587	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	110	0.00	0	C	NM_019609	Intron	2778613	2778613	-1	no_errors	ENST00000380605	ensembl	human	known	69_37n	splice_site	36	26.53	13	SNP	0.998	T
DNAAF1	123872	genome.wustl.edu	37	16	84203706	84203706	+	Silent	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr16:84203706G>A	ENST00000378553.5	+	8	1396	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	424	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCTACTGTCGTCACCTGTGG	0.622																																						dbGAP											0													61.0	64.0	63.0					16																	84203706		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1272G>A	16.37:g.84203706G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	NULL	p.S424	ENST00000378553.5	37	c.1272	CCDS10943.2	16																																																																																			DNAAF1	-	NULL	ENSG00000154099		0.622	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	47	0.00	0	G	NM_178452		84203706	84203706	+1	no_errors	ENST00000378553	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.000	A
DNAH17	8632	genome.wustl.edu	37	17	76455994	76455994	+	Silent	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr17:76455994C>T	ENST00000585328.1	-	60	9634	c.9510G>A	c.(9508-9510)ggG>ggA	p.G3170G	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.G3161G	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3161	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGATCTTGCCCCCAGGTGCGG	0.572																																						dbGAP											0													108.0	82.0	91.0					17																	76455994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9510G>A	17.37:g.76455994C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,superfamily_HR1_rho-bd	p.G376E	ENST00000585328.1	37	c.1127		17																																																																																			DNAH17	-	NULL	ENSG00000187775		0.572	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	22	0.00	0	C	NM_173628		76455994	76455994	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591369	ensembl	human	known	69_37n	missense	11	50.00	11	SNP	0.153	T
DXO	1797	genome.wustl.edu	37	6	31937674	31937675	+	Frame_Shift_Ins	INS	-	-	G	rs553455420		TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr6:31937674_31937675insG	ENST00000375349.3	-	7	1581_1582	c.1170_1171insC	c.(1168-1173)cccaagfs	p.K391fs	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Frame_Shift_Ins_p.K391fs|DXO_ENST00000375356.3_Frame_Shift_Ins_p.K391fs			O77932	DXO_HUMAN	decapping exoribonuclease	391					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)	p.P390R(1)									GAGGGAGTCTTGGGGGGTGATG	0.5																																						dbGAP											1	Substitution - Missense(1)	skin(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.1171dupC	6.37:g.31937680_31937680dupG	ENSP00000364498:p.Lys391fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Frame_Shift_Ins	INS	pfam_RAI1	p.K390fs	ENST00000375349.3	37	c.1171_1170	CCDS4732.1	6																																																																																			DOM3Z	-	NULL	ENSG00000204348		0.500	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DOM3Z	HGNC	protein_coding	OTTHUMT00000076592.3	40	0.00	0	-			31937674	31937675	-1	no_errors	ENST00000337523	ensembl	human	known	69_37n	frame_shift_ins	17	15.00	3	INS	0.980:0.835	G
EIF4A2	1974	genome.wustl.edu	37	3	186505647	186505647	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr3:186505647C>G	ENST00000323963.5	+	10	1119	c.1055C>G	c.(1054-1056)aCc>aGc	p.T352S	SNORA4_ENST00000584302.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.T353S|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.T257S			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	352	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCTACCTACCAATCGTGAA	0.343			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													76.0	78.0	77.0					3																	186505647		2203	4299	6502	-	-	-	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1055C>G	3.37:g.186505647C>G	ENSP00000326381:p.Thr352Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T353S	ENST00000323963.5	37	c.1058	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652879	0.47362	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.04603	3.59;3.59;3.59	5.43	5.43	0.79202	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.03739	0.0106	N	0.12182	0.205	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.14023	0.01;0.002;0.003	T	0.53005	-0.8499	10	0.15499	T	0.54	-23.7025	17.0851	0.86609	0.0:1.0:0.0:0.0	.	257;353;352	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	S	352;353;257	ENSP00000326381:T352S;ENSP00000398370:T353S;ENSP00000348925:T257S	ENSP00000326381:T352S	T	+	2	0	EIF4A2	187988341	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.677000	0.68142	2.709000	0.92574	0.563000	0.77884	ACC	EIF4A2	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000156976		0.343	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	122	0.00	0	C	NM_001967		186505647	186505647	+1	no_errors	ENST00000440191	ensembl	human	known	69_37n	missense	58	58.27	81	SNP	1.000	G
ERCC3	2071	genome.wustl.edu	37	2	128051120	128051120	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr2:128051120T>G	ENST00000285398.2	-	2	297	c.203A>C	c.(202-204)aAg>aCg	p.K68T	ERCC3_ENST00000493187.2_Missense_Mutation_p.K4T	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	68					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTGGTCGTCCTTCAGCGGCAT	0.612			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	0													91.0	80.0	84.0					2																	128051120		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.203A>C	2.37:g.128051120T>G	ENSP00000285398:p.Lys68Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QM0	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	p.K68T	ENST00000285398.2	37	c.203	CCDS2144.1	2	.	.	.	.	.	.	.	.	.	.	T	32	5.180440	0.94846	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.75938	-0.94;-0.98	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	M	0.72479	2.2	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.972;0.972	D	0.86406	0.1745	10	0.87932	D	0	-27.1336	14.0214	0.64558	0.0:0.0:0.0:1.0	.	68;68	A8K359;P19447	.;ERCC3_HUMAN	T	68;4	ENSP00000285398:K68T;ENSP00000444796:K4T	ENSP00000285398:K68T	K	-	2	0	ERCC3	127767590	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.272000	0.78516	1.902000	0.55061	0.533000	0.62120	AAG	ERCC3	-	tigrfam_XPGB_DNA_repair	ENSG00000163161		0.612	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	29	0.00	0	T	NM_000122		128051120	128051120	-1	no_errors	ENST00000285398	ensembl	human	known	69_37n	missense	24	16.67	5	SNP	1.000	G
EYS	346007	genome.wustl.edu	37	6	66094305	66094305	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr6:66094305A>C	ENST00000370621.3	-	8	1799	c.1273T>G	c.(1273-1275)Tgt>Ggt	p.C425G	EYS_ENST00000370616.2_Missense_Mutation_p.C425G|EYS_ENST00000370618.3_Missense_Mutation_p.C425G|EYS_ENST00000342421.5_Missense_Mutation_p.C425G|EYS_ENST00000503581.1_Missense_Mutation_p.C425G|EYS_ENST00000393380.2_Missense_Mutation_p.C425G			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	425					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATATTGAAACACCATTCTTCA	0.313																																						dbGAP											0													98.0	96.0	96.0					6																	66094305		2202	4293	6495	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1273T>G	6.37:g.66094305A>C	ENSP00000359655:p.Cys425Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C425G	ENST00000370621.3	37	c.1273		6	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759857	0.69763	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.98835	1.39;1.39;1.39;-5.17;-5.17;-5.17	6.07	-0.698	0.11280	.	.	.	.	.	D	0.98585	0.9527	H	0.95470	3.675	0.26574	N	0.9735	D;D;D	0.63046	0.96;0.992;0.986	P;P;P	0.59948	0.59;0.866;0.738	D	0.96251	0.9183	9	0.87932	D	0	.	5.7036	0.17895	0.641:0.0:0.2463:0.1127	.	425;425;425	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	G	425	ENSP00000424243:C425G;ENSP00000359655:C425G;ENSP00000359650:C425G;ENSP00000377042:C425G;ENSP00000341818:C425G;ENSP00000359652:C425G	ENSP00000341818:C425G	C	-	1	0	EYS	66151026	0.998000	0.40836	0.930000	0.37139	0.995000	0.86356	1.422000	0.34826	-0.318000	0.08665	0.533000	0.62120	TGT	EYS	-	NULL	ENSG00000188107		0.313	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	98	0.00	0	A	XM_294050		66094305	66094305	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	101	15.13	18	SNP	1.000	C
FAM104A	84923	genome.wustl.edu	37	17	71228436	71228437	+	Frame_Shift_Ins	INS	-	-	C	rs201327693	byFrequency	TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr17:71228436_71228437insC	ENST00000403627.3	-	1	69_70	c.9_10insG	c.(7-12)gggcgcfs	p.R4fs	C17orf80_ENST00000268942.8_5'Flank|C17orf80_ENST00000255557.4_5'UTR|C17orf80_ENST00000359042.2_5'Flank|FAM104A_ENST00000581110.1_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000583024.1_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000535032.2_5'Flank|C17orf80_ENST00000577615.1_5'Flank|C17orf80_ENST00000582793.1_5'Flank|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_5'Flank	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	4								p.R4fs*8(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGCTCCGCGCCCCCCCATGT	0.723																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.10dupG	17.37:g.71228443_71228443dupC	ENSP00000384648:p.Arg4fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E339	Frame_Shift_Ins	INS	NULL	p.R3fs	ENST00000403627.3	37	c.10_9	CCDS11693.2	17																																																																																			FAM104A	-	NULL	ENSG00000133193		0.723	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM104A	HGNC	protein_coding	OTTHUMT00000318935.1	10	0.00	0	-	NM_032837		71228436	71228437	-1	no_errors	ENST00000405159	ensembl	human	known	69_37n	frame_shift_ins	9	25.00	3	INS	1.000:1.000	C
FAM109B	150368	genome.wustl.edu	37	22	42473376	42473377	+	Frame_Shift_Ins	INS	-	-	G	rs200775641	byFrequency	TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr22:42473376_42473377insG	ENST00000321753.3	+	3	266_267	c.79_80insG	c.(79-81)tggfs	p.W27fs	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	27	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGCGCACCTGGGGGGGCCCA	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.86dupG	22.37:g.42473383_42473383dupG	ENSP00000312753:p.Trp27fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXQ3|Q8N6L9	Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P31fs	ENST00000321753.3	37	c.79_80	CCDS33655.1	22																																																																																			FAM109B	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000177096		0.634	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM109B	HGNC	protein_coding	OTTHUMT00000322084.1	31	0.00	0	-	NM_001002034		42473376	42473377	+1	no_errors	ENST00000321753	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.979:1.000	G
FRMPD3	84443	genome.wustl.edu	37	X	106769911	106769911	+	Silent	SNP	C	C	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chrX:106769911C>A	ENST00000276185.4	+	3	192	c.192C>A	c.(190-192)ggC>ggA	p.G64G	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	64	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTATATATGGCTTTGGCTTCG	0.552																																						dbGAP											0													134.0	118.0	123.0					X																	106769911		876	1991	2867	-	-	-	SO:0001819	synonymous_variant	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.192C>A	X.37:g.106769911C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK8	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.G64	ENST00000276185.4	37	c.192		X																																																																																			FRMPD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000147234		0.552	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		246	0.00	0	C	XM_042978		106769911	106769911	+1	no_errors	ENST00000276185	ensembl	human	known	69_37n	silent	128	52.06	139	SNP	1.000	A
GALNT14	79623	genome.wustl.edu	37	2	31165080	31165080	+	Silent	SNP	A	A	C			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr2:31165080A>C	ENST00000349752.5	-	9	1557	c.918T>G	c.(916-918)ggT>ggG	p.G306G	GALNT14_ENST00000324589.5_Silent_p.G311G|GALNT14_ENST00000420311.2_Silent_p.G271G|GALNT14_ENST00000406653.1_Silent_p.G286G|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.G273G	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	306	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGTTCTCCCCACCCCAGATGT	0.512																																						dbGAP											0													135.0	123.0	127.0					2																	31165080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.918T>G	2.37:g.31165080A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G306	ENST00000349752.5	37	c.918	CCDS1773.2	2																																																																																			GALNT14	-	NULL	ENSG00000158089		0.512	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	174	0.00	0	A	NM_024572		31165080	31165080	-1	no_errors	ENST00000349752	ensembl	human	known	69_37n	silent	207	21.89	58	SNP	0.336	C
GATA3	2625	genome.wustl.edu	37	10	8115809	8115810	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr10:8115809_8115810delCC	ENST00000346208.3	+	6	1610_1611	c.1155_1156delCC	c.(1153-1158)ttccccfs	p.P386fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.P387fs			P23771	GATA3_HUMAN	GATA binding protein 3	386					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)			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						TGGAGGACTTCCCCAAGAACAG	0.535			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	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.1155_1156delCC	10.37:g.8115811_8115812delCC	ENSP00000341619:p.Pro386fs	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.P387fs	ENST00000346208.3	37	c.1158_1159	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.535	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	94	0.00	0	CC	NM_001002295		8115809	8115810	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	127	36.32	73	DEL	1.000:1.000	-
GGT1	2678	genome.wustl.edu	37	22	25016911	25016911	+	Missense_Mutation	SNP	C	C	T	rs199703506	byFrequency	TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr22:25016911C>T	ENST00000400382.1	+	9	1362	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	GGT1_ENST00000466310.1_Intron|GGT1_ENST00000406383.2_Missense_Mutation_p.R203W|GGT1_ENST00000400380.1_Missense_Mutation_p.R203W|GGT1_ENST00000248923.4_Missense_Mutation_p.R203W|GGT1_ENST00000400383.1_Missense_Mutation_p.R203W			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	203					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.R203W(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AAAGGTGCTTCGGGAGGGGGA	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											20.0	22.0	21.0					22																	25016911		1981	4142	6123	-	-	-	SO:0001583	missense	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.607C>T	22.37:g.25016911C>T	ENSP00000383232:p.Arg203Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.R203W	ENST00000400382.1	37	c.607	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	.	16.88	3.244872	0.59103	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	3.94	1.51	0.23008	.	0.465560	0.21948	U	0.066770	T	0.18841	0.0452	M	0.62016	1.91	0.29917	N	0.823045	D	0.76494	0.999	P	0.58970	0.849	T	0.03121	-1.1070	10	0.87932	D	0	-23.2527	10.8877	0.46976	0.3395:0.6605:0.0:0.0	.	203	P19440	GGT1_HUMAN	W	203	ENSP00000248923:R203W;ENSP00000393537:R203W;ENSP00000383232:R203W;ENSP00000383233:R203W;ENSP00000383231:R203W;ENSP00000385975:R203W	ENSP00000248923:R203W	R	+	1	2	GGT1	23346911	0.047000	0.20315	0.042000	0.18584	0.549000	0.35272	1.263000	0.33004	0.735000	0.32537	0.555000	0.69702	CGG	GGT1	-	pfam_GGT_peptidase,tigrfam_GGT_peptidase	ENSG00000100031		0.652	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	27	0.00	0	C	NM_013430		25016911	25016911	+1	no_errors	ENST00000248923	ensembl	human	known	69_37n	missense	18	14.29	3	SNP	0.922	T
GJC1	10052	genome.wustl.edu	37	17	42883150	42883150	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr17:42883150C>G	ENST00000426548.1	-	3	305	c.36G>C	c.(34-36)gaG>gaC	p.E12D	GJC1_ENST00000590758.1_Missense_Mutation_p.E12D|GJC1_ENST00000592524.1_Missense_Mutation_p.E12D|GJC1_ENST00000330514.4_Missense_Mutation_p.E12D	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	12					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GGTTGTGAATCTCCTCTAGCA	0.418																																						dbGAP											0													49.0	42.0	44.0					17																	42883150		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.36G>C	17.37:g.42883150C>G	ENSP00000411528:p.Glu12Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW68|Q4VAY0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45	p.E12D	ENST00000426548.1	37	c.36	CCDS11487.1	17	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711202	0.68730	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99150	-5.49;-5.49	5.26	5.26	0.73747	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99041	1.0824	10	0.59425	D	0.04	.	11.3628	0.49653	0.0:0.9175:0.0:0.0825	.	12	P36383	CXG1_HUMAN	D	12	ENSP00000411528:E12D;ENSP00000333193:E12D	ENSP00000333193:E12D	E	-	3	2	GJC1	40238676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.423000	0.52756	2.458000	0.83093	0.455000	0.32223	GAG	GJC1	-	pfam_Connexin_N	ENSG00000182963		0.418	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC1	HGNC	protein_coding	OTTHUMT00000448661.1	102	0.97	1	C	NM_005497		42883150	42883150	-1	no_errors	ENST00000330514	ensembl	human	known	69_37n	missense	65	51.13	68	SNP	1.000	G
GPR101	83550	genome.wustl.edu	37	X	136113230	136113230	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chrX:136113230C>T	ENST00000298110.1	-	1	603	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGTGGAATGACGATGAAGGAC	0.567																																						dbGAP											0													78.0	66.0	70.0					X																	136113230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.604G>A	X.37:g.136113230C>T	ENSP00000298110:p.Val202Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSM8|Q8NG93	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V202I	ENST00000298110.1	37	c.604	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.499489	0.01001	.	.	ENSG00000165370	ENST00000298110	T	0.73152	-0.72	5.13	-1.89	0.07689	GPCR, rhodopsin-like superfamily (1);	0.589703	0.12687	N	0.447441	T	0.51907	0.1702	N	0.26042	0.785	0.19300	N	0.99997	B	0.11235	0.004	B	0.06405	0.002	T	0.37686	-0.9695	10	0.54805	T	0.06	-6.8495	6.9808	0.24702	0.0:0.3125:0.1519:0.5356	.	202	Q96P66	GP101_HUMAN	I	202	ENSP00000298110:V202I	ENSP00000298110:V202I	V	-	1	0	GPR101	135940896	0.594000	0.26849	0.042000	0.18584	0.676000	0.39594	-0.176000	0.09811	-0.530000	0.06349	-0.208000	0.12717	GTC	GPR101	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000165370		0.567	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	153	0.00	0	C			136113230	136113230	-1	no_errors	ENST00000298110	ensembl	human	known	69_37n	missense	87	20.91	23	SNP	0.260	T
GPR78	27201	genome.wustl.edu	37	4	8588882	8588882	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr4:8588882C>T	ENST00000382487.4	+	3	1301	c.884C>T	c.(883-885)tCt>tTt	p.S295F	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	295					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TTCACGTACTCTCTGCTCCGC	0.662																																						dbGAP											0													42.0	43.0	43.0					4																	8588882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.884C>T	4.37:g.8588882C>T	ENSP00000371927:p.Ser295Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NGV3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.S295F	ENST00000382487.4	37	c.884	CCDS3403.1	4	.	.	.	.	.	.	.	.	.	.	C	5.794	0.330891	0.10956	.	.	ENSG00000155269	ENST00000382487	T	0.37752	1.18	3.25	0.489	0.16854	.	0.262562	0.31358	N	0.007784	T	0.16769	0.0403	N	0.08118	0	0.33208	D	0.553001	B	0.20550	0.046	B	0.18871	0.023	T	0.06935	-1.0799	10	0.59425	D	0.04	.	7.5852	0.27989	0.0:0.7014:0.0:0.2986	.	295	Q96P69	GPR78_HUMAN	F	295	ENSP00000371927:S295F	ENSP00000371927:S295F	S	+	2	0	GPR78	8639782	0.575000	0.26692	0.000000	0.03702	0.000000	0.00434	0.961000	0.29267	-0.353000	0.08224	-0.751000	0.03497	TCT	GPR78	-	prints_7TM_GPCR_Rhodpsn	ENSG00000155269		0.662	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	21	0.00	0	C			8588882	8588882	+1	no_errors	ENST00000382487	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.910	T
GTSE1	51512	genome.wustl.edu	37	22	46704569	46704569	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr22:46704569A>T	ENST00000454366.1	+	4	703	c.491A>T	c.(490-492)gAg>gTg	p.E164V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	145					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTTAAAAGGGAGACATACTAC	0.542																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											0													65.0	80.0	75.0					22																	46704569		2195	4281	6476	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.491A>T	22.37:g.46704569A>T	ENSP00000415430:p.Glu164Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.E164V	ENST00000454366.1	37	c.491	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287234	0.80803	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.15603	2.41	5.45	5.45	0.79879	.	0.049489	0.85682	D	0.000000	T	0.45316	0.1336	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.49725	-0.8909	10	0.87932	D	0	-41.7415	15.1936	0.73067	1.0:0.0:0.0:0.0	.	145	Q9NYZ3	GTSE1_HUMAN	V	164;124	ENSP00000415430:E164V	ENSP00000354634:E124V	E	+	2	0	GTSE1	45083233	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.158000	0.71851	2.062000	0.61559	0.533000	0.62120	GAG	GTSE1	-	NULL	ENSG00000075218		0.542	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	109	0.00	0	A	NM_016426		46704569	46704569	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	1.000	T
HAUS1	115106	genome.wustl.edu	37	18	43685277	43685277	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr18:43685277G>T	ENST00000282058.6	+	2	228	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	ATP5A1_ENST00000282050.2_5'Flank|HAUS1_ENST00000585518.1_Missense_Mutation_p.D50Y	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	50					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CCGGGACAGGGATGTCTACCT	0.428																																					NSCLC(79;183 1423 5813 15597 38427)	dbGAP											0													67.0	62.0	64.0					18																	43685277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.148G>T	18.37:g.43685277G>T	ENSP00000282058:p.Asp50Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDM7|Q8N837	Missense_Mutation	SNP	NULL	p.D50Y	ENST00000282058.6	37	c.148	CCDS11928.1	18	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038329	0.75617	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.4	5.4	0.78164	.	0.096275	0.64402	D	0.000001	D	0.82761	0.5107	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84814	0.0792	9	0.87932	D	0	-0.0391	18.7708	0.91892	0.0:0.0:1.0:0.0	.	50	Q96CS2	HAUS1_HUMAN	Y	50	.	ENSP00000282058:D50Y	D	+	1	0	HAUS1	41939275	1.000000	0.71417	0.994000	0.49952	0.697000	0.40408	4.933000	0.63484	2.532000	0.85374	0.650000	0.86243	GAT	HAUS1	-	NULL	ENSG00000152240		0.428	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS1	HGNC	protein_coding	OTTHUMT00000255885.1	79	0.00	0	G	NM_138443		43685277	43685277	+1	no_errors	ENST00000282058	ensembl	human	known	69_37n	missense	39	53.57	45	SNP	1.000	T
HCN3	57657	genome.wustl.edu	37	1	155257006	155257006	+	Missense_Mutation	SNP	G	G	A	rs112049548		TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr1:155257006G>A	ENST00000368358.3	+	7	1528	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	HCN3_ENST00000496230.1_Intron	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	507					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCAGTGTTCGGGCTGACACC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													91.0	76.0	81.0					1																	155257006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1520G>A	1.37:g.155257006G>A	ENSP00000357342:p.Arg507Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R507Q	ENST00000368358.3	37	c.1520	CCDS1108.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.230327	0.95207	.	.	ENSG00000143630	ENST00000368358	D	0.96992	-4.2	4.75	4.75	0.60458	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.41097	D	0.000950	D	0.95050	0.8397	M	0.64260	1.97	0.80722	D	1	P;D	0.56746	0.949;0.977	B;P	0.47864	0.337;0.559	D	0.95483	0.8562	10	0.72032	D	0.01	.	15.5998	0.76616	0.0:0.0:1.0:0.0	.	202;507	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	Q	507	ENSP00000357342:R507Q	ENSP00000357342:R507Q	R	+	2	0	HCN3	153523630	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.328000	0.96403	2.352000	0.79861	0.563000	0.77884	CGG	HCN3	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000143630		0.582	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	81	0.00	0	G	NM_020897		155257006	155257006	+1	no_errors	ENST00000368358	ensembl	human	known	69_37n	missense	44	33.33	22	SNP	1.000	A
MROH2B	133558	genome.wustl.edu	37	5	41049481	41049481	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr5:41049481C>T	ENST00000399564.4	-	14	1852	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E23K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	468			E -> V (in dbSNP:rs17198125).														AACAGGGGCTCCAGAGCTTCT	0.483																																						dbGAP											0													68.0	66.0	67.0					5																	41049481		1913	4124	6037	-	-	-	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1402G>A	5.37:g.41049481C>T	ENSP00000382476:p.Glu468Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E468K	ENST00000399564.4	37	c.1402	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	7.682	0.689219	0.14973	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07688	3.17;3.17	5.7	2.69	0.31865	Armadillo-type fold (1);	1.888760	0.02548	N	0.095394	T	0.03477	0.0100	N	0.02011	-0.69	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.37911	-0.9685	10	0.13470	T	0.59	.	4.5892	0.12299	0.1456:0.599:0.161:0.0944	.	468	Q7Z745	HTRB2_HUMAN	K	23;172;468	ENSP00000441504:E23K;ENSP00000382476:E468K	ENSP00000296803:E172K	E	-	1	0	HEATR7B2	41085238	0.000000	0.05858	0.176000	0.23000	0.154000	0.21943	-0.704000	0.05058	0.728000	0.32382	0.650000	0.86243	GAG	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	78	0.00	0	C	NM_173489		41049481	41049481	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	103	38.32	64	SNP	0.025	T
HECW1	23072	genome.wustl.edu	37	7	43484512	43484512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr7:43484512G>T	ENST00000395891.2	+	11	2346	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E581*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	581					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGCGGCAGAGGAGGAGGACGG	0.701																																						dbGAP											0													26.0	31.0	30.0					7																	43484512		2130	4239	6369	-	-	-	SO:0001587	stop_gained	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1741G>T	7.37:g.43484512G>T	ENSP00000379228:p.Glu581*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E581*	ENST00000395891.2	37	c.1741	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	40	8.182312	0.98693	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	4.49	3.61	0.41365	.	0.630238	0.16982	N	0.191668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	12.3551	0.55171	0.0827:0.0:0.9173:0.0	.	.	.	.	X	581	.	ENSP00000265522:E581X	E	+	1	0	HECW1	43451037	1.000000	0.71417	0.307000	0.25127	0.589000	0.36550	5.557000	0.67313	0.870000	0.35726	0.563000	0.77884	GAG	HECW1	-	NULL	ENSG00000002746		0.701	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	20	0.00	0	G	NM_015052		43484512	43484512	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	nonsense	4	50.00	5	SNP	1.000	T
KANK1	23189	genome.wustl.edu	37	9	712824	712824	+	Silent	SNP	C	C	G			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr9:712824C>G	ENST00000382303.1	+	7	2710	c.2058C>G	c.(2056-2058)acC>acG	p.T686T	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.T528T|KANK1_ENST00000382297.2_Silent_p.T686T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	686					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCACCAACACCGAGACGGCCA	0.562																																						dbGAP											0													101.0	69.0	80.0					9																	712824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2058C>G	9.37:g.712824C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T686	ENST00000382303.1	37	c.2058	CCDS34976.1	9																																																																																			KANK1	-	NULL	ENSG00000107104		0.562	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	59	0.00	0	C	NM_015158		712824	712824	+1	no_errors	ENST00000382297	ensembl	human	known	69_37n	silent	45	19.64	11	SNP	0.003	G
KAT6B	23522	genome.wustl.edu	37	10	76748864	76748864	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr10:76748864G>A	ENST00000287239.4	+	13	3112	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	KAT6B_ENST00000372724.1_Missense_Mutation_p.D583N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D583N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D583N|KAT6B_ENST00000372711.1_Missense_Mutation_p.D692N|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	875	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTTTCTCATTGATTTCAGTAA	0.398																																						dbGAP											0													117.0	117.0	117.0					10																	76748864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2623G>A	10.37:g.76748864G>A	ENSP00000287239:p.Asp875Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D875N	ENST00000287239.4	37	c.2623	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077939	0.76528	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79352	-1.24;-1.24;-1.26;-1.24;-1.25	5.85	5.85	0.93711	.	0.000000	0.51477	D	0.000085	D	0.89392	0.6702	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.997	P;D;D	0.91635	0.847;0.999;0.938	D	0.89768	0.3952	10	0.87932	D	0	-14.6475	20.1354	0.98024	0.0:0.0:1.0:0.0	.	692;583;875	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	583;583;875;583;692	ENSP00000361810:D583N;ENSP00000361809:D583N;ENSP00000287239:D875N;ENSP00000361799:D583N;ENSP00000361796:D692N	ENSP00000287239:D875N	D	+	1	0	KAT6B	76418870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.756000	0.94617	0.650000	0.86243	GAT	KAT6B	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase	ENSG00000156650		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	201	0.00	0	G	NM_012330		76748864	76748864	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	missense	311	20.41	80	SNP	1.000	A
KCNQ3	3786	genome.wustl.edu	37	8	133141963	133141963	+	Missense_Mutation	SNP	C	C	G	rs377725346		TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr8:133141963C>G	ENST00000388996.4	-	15	2585	c.2165G>C	c.(2164-2166)cGa>cCa	p.R722P	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R710P|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R602P	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	722					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGTCCCCCTCGGGGCAGGTT	0.572																																						dbGAP											0													39.0	40.0	40.0					8																	133141963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2165G>C	8.37:g.133141963C>G	ENSP00000373648:p.Arg722Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R722P	ENST00000388996.4	37	c.2165	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	4.707	0.131553	0.08981	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98996	-5.29;-5.25;-5.31	5.39	-2.32	0.06745	.	1.167210	0.06460	N	0.729231	D	0.93841	0.8030	N	0.08118	0	0.09310	N	1	B;B	0.21147	0.052;0.052	B;B	0.20577	0.03;0.03	D	0.89847	0.4007	10	0.28530	T	0.3	0.8632	0.1808	0.00123	0.2782:0.1925:0.1795:0.3498	.	710;722	E7ET42;O43525	.;KCNQ3_HUMAN	P	722;602;710;699;601	ENSP00000373648:R722P;ENSP00000429799:R602P;ENSP00000428790:R710P	ENSP00000373648:R722P	R	-	2	0	KCNQ3	133211145	0.000000	0.05858	0.007000	0.13788	0.689000	0.40095	-0.660000	0.05317	-0.455000	0.07054	0.650000	0.86243	CGA	KCNQ3	-	NULL	ENSG00000184156		0.572	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	83	0.00	0	C	NM_004519		133141963	133141963	-1	no_errors	ENST00000388996	ensembl	human	known	69_37n	missense	257	11.60	34	SNP	0.000	G
LGALS9B	284194	genome.wustl.edu	37	17	20356373	20356373	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr17:20356373G>A	ENST00000423676.3	-	7	647	c.584C>T	c.(583-585)aCa>aTa	p.T195I	LGALS9B_ENST00000324290.5_Missense_Mutation_p.T195I			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	195							carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GTGGATGACTGTCTGGGTCTG	0.567																																						dbGAP											0													184.0	96.0	128.0					17																	20356373		2196	3903	6099	-	-	-	SO:0001583	missense	0				CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.584C>T	17.37:g.20356373G>A	ENSP00000388841:p.Thr195Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLF8|A8K2J8	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.T195I	ENST00000423676.3	37	c.584		17	.	.	.	.	.	.	.	.	.	.	G	8.442	0.851001	0.17034	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.03607	3.87;3.87	2.5	0.276	0.15663	.	0.650910	0.15874	N	0.240382	T	0.02649	0.0080	L	0.34521	1.04	0.09310	N	1	P;B	0.45396	0.857;0.164	B;B	0.41619	0.361;0.187	T	0.43360	-0.9396	10	0.23302	T	0.38	.	2.9072	0.05725	0.1635:0.0:0.5664:0.2701	.	195;195	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	I	195	ENSP00000388841:T195I;ENSP00000315564:T195I	ENSP00000315564:T195I	T	-	2	0	LGALS9B	20296965	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.080000	0.11339	-0.017000	0.14103	0.194000	0.17425	ACA	LGALS9B	-	NULL	ENSG00000170298		0.567	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	LGALS9B	HGNC	protein_coding	OTTHUMT00000253230.2	50	0.00	0	G	NM_001042685		20356373	20356373	-1	no_errors	ENST00000423676	ensembl	human	known	69_37n	missense	9	76.92	30	SNP	0.000	A
MYO1H	283446	genome.wustl.edu	37	12	109843800	109843800	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr12:109843800C>A	ENST00000431443.2	+	7	875	c.875C>A	c.(874-876)gCc>gAc	p.A292D	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000310903.5_Missense_Mutation_p.A292D	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	292	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAGGCTGTGCCACTATCCCA	0.502																																						dbGAP											0													92.0	85.0	87.0					12																	109843800		1953	4148	6101	-	-	-	SO:0001583	missense	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.875C>A	12.37:g.109843800C>A	ENSP00000444076:p.Ala292Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.A292D	ENST00000431443.2	37	c.875		12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277286	0.80580	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.91295	-2.82;-2.82	4.88	3.97	0.46021	.	.	.	.	.	D	0.95878	0.8658	M	0.93283	3.4	0.43798	D	0.996344	D	0.69078	0.997	D	0.66351	0.943	D	0.96473	0.9350	9	0.87932	D	0	.	13.2175	0.59869	0.0:0.9177:0.0:0.0823	.	292	F5H3C6	.	D	292	ENSP00000439182:A292D;ENSP00000444076:A292D	ENSP00000439182:A292D	A	+	2	0	MYO1H	108328183	0.999000	0.42202	0.995000	0.50966	0.994000	0.84299	4.250000	0.58772	2.439000	0.82584	0.650000	0.86243	GCC	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000174527		0.502	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		76	0.00	0	C	NM_173597		109843800	109843800	+1	no_errors	ENST00000431443	ensembl	human	known	69_37n	missense	162	15.18	29	SNP	0.988	A
NCR1	9437	genome.wustl.edu	37	19	55418015	55418015	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr19:55418015G>A	ENST00000291890.4	+	3	243	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	NCR1_ENST00000357397.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.V69M|NCR1_ENST00000338835.5_Missense_Mutation_p.V69M|NCR1_ENST00000598576.1_Missense_Mutation_p.V57M|NCR1_ENST00000447255.1_Missense_Mutation_p.V69M|NCR1_ENST00000350790.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	69	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCTTTTTGCCGTGGACAGACC	0.488																																						dbGAP											0													68.0	71.0	70.0					19																	55418015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.205G>A	19.37:g.55418015G>A	ENSP00000291890:p.Val69Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	smart_Ig_sub	p.V69M	ENST00000291890.4	37	c.205	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688892	0.29962	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.10099	2.91;2.91;2.91	3.87	-6.69	0.01772	Immunoglobulin-like fold (1);	3.374160	0.00710	N	0.000825	T	0.08935	0.0221	L	0.38175	1.15	0.09310	N	1	D;D;D	0.64830	0.979;0.986;0.994	B;B;B	0.44133	0.339;0.315;0.442	T	0.34775	-0.9815	10	0.54805	T	0.06	.	3.8637	0.09007	0.2329:0.0866:0.5029:0.1776	.	69;69;69	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	M	69	ENSP00000291890:V69M;ENSP00000404434:V69M;ENSP00000339515:V69M	ENSP00000291890:V69M	V	+	1	0	NCR1	60109827	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.875000	0.04205	-1.687000	0.01437	-0.271000	0.10264	GTG	NCR1	-	smart_Ig_sub	ENSG00000189430		0.488	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	154	0.00	0	G			55418015	55418015	+1	no_errors	ENST00000291890	ensembl	human	known	69_37n	missense	118	16.90	24	SNP	0.000	A
NDST1	3340	genome.wustl.edu	37	5	149907411	149907411	+	Silent	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr5:149907411C>T	ENST00000261797.6	+	3	1061	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	NDST1_ENST00000523767.1_Silent_p.L187L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	187	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCTTCCCCCTGTTCCTGCA	0.587																																						dbGAP											0													56.0	50.0	52.0					5																	149907411		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.559C>T	5.37:g.149907411C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E57	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.L187	ENST00000261797.6	37	c.559	CCDS34277.1	5																																																																																			NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.587	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	56	0.00	0	C	NM_001543		149907411	149907411	+1	no_errors	ENST00000261797	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	1.000	T
PTCH2	8643	genome.wustl.edu	37	1	45288193	45288194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr1:45288193_45288194insG	ENST00000372192.3	-	22	3635_3636	c.3505_3506insC	c.(3505-3507)ctgfs	p.L1169fs	PTCH2_ENST00000447098.2_Intron|RNU5E-6P_ENST00000365574.1_RNA	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1169					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACCAGGCAGGGGGGGTGGG	0.653									Basal Cell Nevus syndrome																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3506dupC	1.37:g.45288200_45288200dupG	ENSP00000361266:p.Leu1169fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Frame_Shift_Ins	INS	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L1169fs	ENST00000372192.3	37	c.3506_3505	CCDS516.1	1																																																																																			PTCH2	-	NULL	ENSG00000117425		0.653	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	42	0.00	0	-	NM_003738		45288193	45288194	-1	no_errors	ENST00000372192	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	0.924:0.616	G
RAB3GAP2	25782	genome.wustl.edu	37	1	220440366	220440366	+	Intron	SNP	G	G	A	rs367895298|rs568642577		TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr1:220440366G>A	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAATCATTTCGGGGGGCAGGT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		18720	0.0		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+5198C>T	1.37:g.220440366G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-	ENSG00000118873		0.498	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	115	0.00	0	G	NM_012414		220440366	220440366	-1	no_errors	ENST00000462353	ensembl	human	known	69_37n	rna	132	17.90	29	SNP	0.997	A
OR2T6	254879	genome.wustl.edu	37	1	248551590	248551590	+	Silent	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr1:248551590G>A	ENST00000355728.2	+	1	681	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTGCATCAGATGACATCGG	0.507																																						dbGAP											0													292.0	231.0	252.0					1																	248551590		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.681G>A	1.37:g.248551590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE36	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q227	ENST00000355728.2	37	c.681	CCDS31114.1	1																																																																																			OR2T6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000198104		0.507	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	81	0.00	0	G	NM_001005471		248551590	248551590	+1	no_errors	ENST00000355728	ensembl	human	known	69_37n	silent	196	11.71	26	SNP	0.003	A
RIMBP2	23504	genome.wustl.edu	37	12	130926628	130926628	+	Silent	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr12:130926628G>A	ENST00000261655.4	-	8	1381	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	RIMBP2_ENST00000535703.1_Silent_p.S314S|RIMBP2_ENST00000536002.1_Silent_p.S314S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	406	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGCTGGGCGGAGATCTGCG	0.627																																						dbGAP											0													103.0	75.0	84.0					12																	130926628		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1218C>T	12.37:g.130926628G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.S406	ENST00000261655.4	37	c.1218	CCDS31925.1	12																																																																																			RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.627	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	42	0.00	0	G	NM_015347		130926628	130926628	-1	no_errors	ENST00000261655	ensembl	human	known	69_37n	silent	11	59.26	16	SNP	0.487	A
RIMBP2	23504	genome.wustl.edu	37	12	130927141	130927141	+	Silent	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr12:130927141G>A	ENST00000261655.4	-	8	868	c.705C>T	c.(703-705)aaC>aaT	p.N235N	RIMBP2_ENST00000535703.1_Silent_p.N143N|RIMBP2_ENST00000536002.1_Silent_p.N143N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	235					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCGCGACTCGTTGTCCTGCA	0.582																																						dbGAP											0													121.0	121.0	121.0					12																	130927141		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.705C>T	12.37:g.130927141G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.N235	ENST00000261655.4	37	c.705	CCDS31925.1	12																																																																																			RIMBP2	-	superfamily_SH3_domain	ENSG00000060709		0.582	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	45	0.00	0	G	NM_015347		130927141	130927141	-1	no_errors	ENST00000261655	ensembl	human	known	69_37n	silent	21	44.74	17	SNP	0.896	A
RP2	6102	genome.wustl.edu	37	X	46713075	46713075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chrX:46713075C>A	ENST00000218340.3	+	2	428	c.267C>A	c.(265-267)tgC>tgA	p.C89*		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	89	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GTACTAACTGCATAATTTTTC	0.423																																						dbGAP											0													136.0	124.0	128.0					X																	46713075		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.267C>A	X.37:g.46713075C>A	ENSP00000218340:p.Cys89*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XJ7|Q9NU67	Nonsense_Mutation	SNP	pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.C89*	ENST00000218340.3	37	c.267	CCDS14270.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.546356	0.96488	.	.	ENSG00000102218	ENST00000218340	.	.	.	5.62	1.16	0.20824	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7378	8.6642	0.34110	0.0:0.5429:0.0:0.4571	.	.	.	.	X	89	.	ENSP00000218340:C89X	C	+	3	2	RP2	46598019	0.003000	0.15002	0.278000	0.24718	0.997000	0.91878	-0.156000	0.10100	-0.204000	0.10235	0.513000	0.50165	TGC	RP2	-	pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	ENSG00000102218		0.423	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	242	0.00	0	C	NM_006915		46713075	46713075	+1	no_errors	ENST00000218340	ensembl	human	known	69_37n	nonsense	376	15.28	68	SNP	0.996	A
RPS10	6204	genome.wustl.edu	37	6	34389559	34389559	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr6:34389559T>A	ENST00000326199.8	-	4	441	c.348A>T	c.(346-348)agA>agT	p.R116S	RPS10_ENST00000344700.3_Missense_Mutation_p.R116S|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.R116S|RPS10_ENST00000494077.1_5'UTR	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	116					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						CTCTTGTGAGTCTCGCAGGTC	0.493																																					Colon(121;749 1624 4895 8687 22360)	dbGAP											0													216.0	218.0	218.0					6																	34389559		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.348A>T	6.37:g.34389559T>A	ENSP00000347271:p.Arg116Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4E3|Q5TZC0	Missense_Mutation	SNP	pfam_S10_plectin_N	p.R116S	ENST00000326199.8	37	c.348	CCDS4792.1	6	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667240	0.67814	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.78364	-1.15;-1.17	5.32	1.67	0.24075	.	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	M	0.82517	2.595	0.58432	D	0.999991	D	0.56287	0.975	P	0.50490	0.642	T	0.68032	-0.5516	10	0.36615	T	0.2	-8.5121	4.2039	0.10480	0.1982:0.2936:0.0:0.5082	.	116	P46783	RS10_HUMAN	S	116	ENSP00000347271:R116S;ENSP00000363169:R116S	ENSP00000347271:R116S	R	-	3	2	RPS10	34497537	0.929000	0.31497	1.000000	0.80357	0.986000	0.74619	0.002000	0.13061	0.426000	0.26116	0.482000	0.46254	AGA	RPS10	-	NULL	ENSG00000124614		0.493	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS10	HGNC	protein_coding	OTTHUMT00000040230.1	161	0.00	0	T			34389559	34389559	-1	no_errors	ENST00000326199	ensembl	human	known	69_37n	missense	95	34.93	51	SNP	0.983	A
SLC12A6	9990	genome.wustl.edu	37	15	34533532	34533532	+	Missense_Mutation	SNP	C	C	G	rs2705357		TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr15:34533532C>G	ENST00000354181.3	-	18	2661	c.2169G>C	c.(2167-2169)gaG>gaC	p.E723D	SLC12A6_ENST00000397707.2_Missense_Mutation_p.E708D|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E664D|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E714D|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E535D|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E672D|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E535D|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E723D|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E664D|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E723D			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	723					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCCATTCTTTCTCAGCTCTGT	0.388																																						dbGAP											0													65.0	64.0	64.0					15																	34533532		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2169G>C	15.37:g.34533532C>G	ENSP00000346112:p.Glu723Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.E714D	ENST00000354181.3	37	c.2142	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867898	0.72065	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	4.78	2.87	0.33458	Amino acid permease domain (1);	0.059267	0.64402	D	0.000004	D	0.97281	0.9111	L	0.37897	1.145	0.80722	D	1	P;D;P;B	0.60160	0.935;0.987;0.662;0.363	P;P;P;B	0.62298	0.811;0.9;0.604;0.297	D	0.96064	0.9041	10	0.87932	D	0	.	7.7414	0.28843	0.0:0.7342:0.0:0.2658	.	708;723;672;535	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	D	672;708;714;664;664;535	ENSP00000290209:E672D;ENSP00000380819:E708D;ENSP00000380814:E664D;ENSP00000387725:E664D;ENSP00000390199:E535D	ENSP00000290209:E672D	E	-	3	2	SLC12A6	32320824	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.125000	0.42016	0.601000	0.29879	0.585000	0.79938	GAG	SLC12A6	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.388	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	66	0.00	0	C	NM_005135		34533532	34533532	-1	no_errors	ENST00000558589	ensembl	human	known	69_37n	missense	128	11.11	16	SNP	1.000	G
SUPT5H	6829	genome.wustl.edu	37	19	39962333	39962333	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr19:39962333G>T	ENST00000599117.1	+	21	2280	c.1913G>T	c.(1912-1914)tGc>tTc	p.C638F	SUPT5H_ENST00000432763.2_Missense_Mutation_p.C638F|SUPT5H_ENST00000598725.1_Missense_Mutation_p.C638F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.C634F|SUPT5H_ENST00000359191.6_Missense_Mutation_p.C634F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	638					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGTTTGTCTGCAAGACCCGC	0.612																																						dbGAP											0													42.0	45.0	44.0					19																	39962333		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1913G>T	19.37:g.39962333G>T	ENSP00000470252:p.Cys638Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.C638F	ENST00000599117.1	37	c.1913	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932552	0.92458	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.81293	0.4792	M	0.84433	2.695	0.80722	D	1	P;P;P;P	0.44521	0.574;0.837;0.699;0.574	P;P;P;P	0.55455	0.498;0.743;0.776;0.67	T	0.82577	-0.0388	8	.	.	.	-25.6319	17.6077	0.88044	0.0:0.0:1.0:0.0	.	616;430;634;638	B4DZJ7;B4DJK4;O00267-2;O00267	.;.;.;SPT5H_HUMAN	F	638;634;616;638	.	.	C	+	2	0	SUPT5H	44654173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.537000	0.98070	2.423000	0.82170	0.514000	0.50259	TGC	SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.612	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	75	0.00	0	G	NM_003169		39962333	39962333	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	T
TLN1	7094	genome.wustl.edu	37	9	35717228	35717228	+	Silent	SNP	C	C	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr9:35717228C>A	ENST00000314888.9	-	19	2726	c.2373G>T	c.(2371-2373)ggG>ggT	p.G791G	TLN1_ENST00000540444.1_Silent_p.G791G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	791					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGCCCAGCCCCTGTGGCAT	0.582																																						dbGAP											0													75.0	74.0	75.0					9																	35717228		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2373G>T	9.37:g.35717228C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.G791	ENST00000314888.9	37	c.2373	CCDS35009.1	9																																																																																			TLN1	-	NULL	ENSG00000137076		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	112	0.00	0	C	NM_006289		35717228	35717228	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	silent	71	13.41	11	SNP	0.109	A
TP53	7157	genome.wustl.edu	37	17	7578205	7578205	+	Missense_Mutation	SNP	C	C	A	rs587782177		TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr17:7578205C>A	ENST00000269305.4	-	6	833	c.644G>T	c.(643-645)aGt>aTt	p.S215I	TP53_ENST00000420246.2_Missense_Mutation_p.S215I|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.S215I|TP53_ENST00000445888.2_Missense_Mutation_p.S215I|TP53_ENST00000455263.2_Missense_Mutation_p.S215I|TP53_ENST00000359597.4_Missense_Mutation_p.S215I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S215I(18)|p.S215N(9)|p.0?(8)|p.?(5)|p.S215T(3)|p.S215fs*32(3)|p.H214fs*5(2)|p.S122N(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.S83I(1)|p.S83N(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.S122I(1)|p.D207_V216del10(1)|p.S215_V218>M(1)|p.R209fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACCACCACACTATGTCGAAA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	64	Substitution - Missense(34)|Deletion - Frameshift(10)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Complex - deletion inframe(2)|Complex - frameshift(1)	biliary_tract(10)|oesophagus(10)|lung(9)|large_intestine(6)|ovary(6)|bone(5)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|kidney(1)|skin(1)											125.0	112.0	116.0					17																	7578205		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.644G>T	17.37:g.7578205C>A	ENSP00000269305:p.Ser215Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S215I	ENST00000269305.4	37	c.644	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898786	0.91962	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D	0.96464	0.9343	10	0.87932	D	0	-18.3023	16.7921	0.85592	0.0:1.0:0.0:0.0	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215I;ENSP00000352610:S215I;ENSP00000269305:S215I;ENSP00000398846:S215I;ENSP00000391127:S215I;ENSP00000391478:S215I;ENSP00000425104:S83I;ENSP00000423862:S122I	ENSP00000269305:S215I	S	-	2	0	TP53	7518930	1.000000	0.71417	0.567000	0.28434	0.964000	0.63967	6.042000	0.70996	2.634000	0.89283	0.563000	0.77884	AGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	76	0.00	0	C	NM_000546		7578205	7578205	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	20	80.77	84	SNP	1.000	A
AC005013.5	0	genome.wustl.edu	37	7	28996972	28996972	+	lincRNA	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr7:28996972G>A	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							AGGGAGGAGAGGGAGCGCAGC	0.677																																						dbGAP											0													36.0	45.0	42.0					7																	28996972		2172	4278	6450	-	-	-			0																															7.37:g.28996972G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000436594.1	37	NULL		7																																																																																			TRIL	-	-	ENSG00000176734		0.677	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	TRIL	HGNC	lincRNA	OTTHUMT00000327953.3	9	0.00	0	G			28996972	28996972	-1	no_errors	ENST00000322982	ensembl	human	known	69_37n	rna	3	62.50	5	SNP	1.000	A
UBE2O	63893	genome.wustl.edu	37	17	74387082	74387082	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr17:74387082G>A	ENST00000319380.7	-	18	3885	c.3821C>T	c.(3820-3822)aCg>aTg	p.T1274M		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1274					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCGGAACTGCGTCAGGACACC	0.592																																						dbGAP											0													93.0	99.0	97.0					17																	74387082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3821C>T	17.37:g.74387082G>A	ENSP00000323687:p.Thr1274Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.T1274M	ENST00000319380.7	37	c.3821	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	g	8.815	0.936267	0.18206	.	.	ENSG00000175931	ENST00000319380	T	0.72505	-0.66	4.59	0.382	0.16234	.	0.910402	0.09365	N	0.812254	T	0.47192	0.1432	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	10	0.51188	T	0.08	-2.3648	5.7222	0.17992	0.1871:0.0:0.6671:0.1458	.	1274	Q9C0C9	UBE2O_HUMAN	M	1274	ENSP00000323687:T1274M	ENSP00000323687:T1274M	T	-	2	0	UBE2O	71898677	0.552000	0.26505	0.226000	0.23910	0.951000	0.60555	0.378000	0.20569	-0.037000	0.13646	0.558000	0.71614	ACG	UBE2O	-	NULL	ENSG00000175931		0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	41	0.00	0	G	NM_022066		74387082	74387082	-1	no_errors	ENST00000319380	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.379	A
VWF	7450	genome.wustl.edu	37	12	6120800	6120800	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr12:6120800C>T	ENST00000261405.5	-	34	6079	c.5825G>A	c.(5824-5826)tGc>tAc	p.C1942Y		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1942					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTCCAGCGGCAGCCACAGGT	0.587																																						dbGAP											0													13.0	14.0	14.0					12																	6120800		2132	4139	6271	-	-	-	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5825G>A	12.37:g.6120800C>T	ENSP00000261405:p.Cys1942Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.C1942Y	ENST00000261405.5	37	c.5825	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	20.3	3.973603	0.74246	.	.	ENSG00000110799	ENST00000261405	T	0.39056	1.1	5.03	5.03	0.67393	von Willebrand factor, type D domain (1);	0.000000	0.45361	D	0.000378	T	0.66597	0.2805	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70824	-0.4767	10	0.87932	D	0	.	17.127	0.86717	0.0:1.0:0.0:0.0	.	1942	P04275	VWF_HUMAN	Y	1942	ENSP00000261405:C1942Y	ENSP00000261405:C1942Y	C	-	2	0	VWF	5991061	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.762000	0.74950	2.610000	0.88304	0.557000	0.71058	TGC	VWF	-	pirsf_VWF,smart_VWF_type-D	ENSG00000110799		0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	36	0.00	0	C	NM_000552		6120800	6120800	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	T
ZNF717	100131827	genome.wustl.edu	37	3	75787267	75787268	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A8-A079-01A-21W-A019-09	TCGA-A8-A079-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	06221ce8-ab65-4694-945b-059b9c15ede4	216ff15e-f1a4-402a-a5bb-a9b4dccd6ada	g.chr3:75787267_75787268delCT	ENST00000478296.1	-	4	1632_1633	c.1356_1357delAG	c.(1354-1359)acagggfs	p.G453fs	ZNF717_ENST00000400845.3_Frame_Shift_Del_p.G496fs|ZNF717_ENST00000422325.1_Frame_Shift_Del_p.G503fs|ZNF717_ENST00000491507.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000477374.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	496					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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GGTTTTTCCCCTGTGTGAGTCC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.1356_1357delAG	3.37:g.75787267_75787268delCT	ENSP00000419377:p.Gly453fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	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.E504fs	ENST00000478296.1	37	c.1507_1506		3																																																																																			ZNF717	-	pfscan_Znf_C2H2	ENSG00000227124		0.446	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	ZNF717	HGNC	protein_coding	OTTHUMT00000352764.2	10	0.00	0	CT	NM_001128223		75787267	75787268	-1	no_errors	ENST00000422325	ensembl	human	known	69_37n	frame_shift_del	15	46.67	14	DEL	1.000:1.000	-
