#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_CAF	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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
GPR64	10149	genome.wustl.edu	37	X	19017307	19017307	+	Silent	SNP	C	C	G			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chrX:19017307C>G	ENST00000379869.3	-	26	2584	c.2421G>C	c.(2419-2421)gtG>gtC	p.V807V	GPR64_ENST00000354791.3_Silent_p.V791V|GPR64_ENST00000340581.3_Silent_p.V688V|GPR64_ENST00000379873.2_Silent_p.V807V|GPR64_ENST00000357991.3_Silent_p.V804V|GPR64_ENST00000379876.1_Silent_p.V783V|GPR64_ENST00000360279.4_Silent_p.V785V|GPR64_ENST00000357544.3_Silent_p.V777V|GPR64_ENST00000379878.3_Silent_p.V791V|GPR64_ENST00000356606.4_Silent_p.V793V	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	807					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GAACCAGGACCACAATGAACA	0.438																																							0											0													143.0	138.0	140.0					X																	19017307		2203	4300	6503	SO:0001819	synonymous_variant	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2421G>C	X.37:g.19017307C>G			B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.V807	ENST00000379869.3	37	c.2421	CCDS43923.1	X																																																																																			0	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.438	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	protein_coding	OTTHUMT00000055970.2	68	163	0	0.00	0	0	C		0	0		19017307	-1	no_errors	ENST00000379869	ensembl	human	known	74_37	silent	79	174	24.04	20.45	25	45	SNP	0.918	G
SLC4A3	6508	genome.wustl.edu	37	2	220500455	220500455	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr2:220500455C>T	ENST00000358055.3	+	14	2545	c.2033C>T	c.(2032-2034)aCg>aTg	p.T678M	SLC4A3_ENST00000273063.6_Missense_Mutation_p.T705M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.T678M|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T705M|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T678M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	678					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGCTGCGGACGGGCTCGGTA	0.642																																							0											0													34.0	35.0	35.0					2																	220500455		2203	4299	6502	SO:0001583	missense	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2033C>T	2.37:g.220500455C>T	ENSP00000350756:p.Thr678Met		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.T705M	ENST00000358055.3	37	c.2114	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810138	0.90707	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);	0.063203	0.64402	D	0.000005	D	0.93993	0.8076	M	0.91612	3.225	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.988	D	0.95460	0.8542	10	0.87932	D	0	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	382;678;705	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	M	678;678;705;705;678	ENSP00000350756:T678M;ENSP00000362865:T678M;ENSP00000273063:T705M;ENSP00000362867:T705M;ENSP00000314006:T678M	ENSP00000273063:T705M	T	+	2	0	SLC4A3	220208699	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.721000	0.84768	2.264000	0.75181	0.643000	0.83706	ACG	0	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	protein_coding	OTTHUMT00000316472.1	63	79	0	0.00	0	0	C	NM_005070	0	0		220500455	1	no_errors	ENST00000273063	ensembl	human	known	74_37	missense	55	89	8.33	8.25	5	8	SNP	0.999	T
OTULIN	90268	genome.wustl.edu	37	5	14673767	14673767	+	Missense_Mutation	SNP	C	C	A			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr5:14673767C>A	ENST00000284274.4	+	2	247	c.169C>A	c.(169-171)Cgt>Agt	p.R57S		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		57					canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GGACATGTACCGTGCTGCAGA	0.363																																							0											0													167.0	164.0	165.0					5																	14673767		1891	4115	6006	SO:0001583	missense	0																														ENST00000284274.4:c.169C>A	5.37:g.14673767C>A	ENSP00000284274:p.Arg57Ser		D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	prints_FAM105,prints_FAM105B,prints_FAM105A	p.R57S	ENST00000284274.4	37	c.169	CCDS43302.1	5	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951465	0.73787	.	.	ENSG00000154124	ENST00000284274	T	0.28454	1.61	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	N	0.19112	0.55	0.42845	D	0.994063	D	0.67145	0.996	D	0.76575	0.988	T	0.39860	-0.9593	10	0.72032	D	0.01	-6.3053	14.183	0.65586	0.0:1.0:0.0:0.0	.	57	Q96BN8	F105B_HUMAN	S	57	ENSP00000284274:R57S	ENSP00000284274:R57S	R	+	1	0	FAM105B	14726767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.843000	0.48238	2.404000	0.81709	0.555000	0.69702	CGT	0	prints_FAM105B		0.363	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	protein_coding	OTTHUMT00000366012.1	109	387	0	0.00	0	0	C		0	0		14673767	1	no_errors	ENST00000284274	ensembl	human	known	74_37	missense	147	283	8.12	6.89	13	21	SNP	1	A
COL14A1	7373	genome.wustl.edu	37	8	121219208	121219208	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr8:121219208C>T	ENST00000297848.3	+	10	1336	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P356S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.P356S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P261S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACTGGGCCGCCTACGGAGTT	0.398																																							0											0													60.0	56.0	58.0					8																	121219208		2203	4300	6503	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1066C>T	8.37:g.121219208C>T	ENSP00000297848:p.Pro356Ser			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P356S	ENST00000297848.3	37	c.1066	CCDS34938.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.818015|4.818015	0.90790|0.90790	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;T	.|0.72615	.|2.32;2.32;-0.67;-0.67;2.32	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89608|0.89608	0.6764|0.6764	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.92179|0.92179	0.5750|0.5750	5|10	.|0.87932	.|D	.|0	.|.	19.6893|19.6893	0.95993|0.95993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|356;356	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	V|S	112|356;356;356;261;169	.|ENSP00000443974:P356S;ENSP00000311809:P356S;ENSP00000297848:P356S;ENSP00000247781:P261S;ENSP00000409461:P169S	.|ENSP00000247781:P261S	A|P	+|+	2|1	0|0	COL14A1|COL14A1	121288389|121288389	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.948000|0.948000	0.59901|0.59901	7.034000|7.034000	0.76511|0.76511	2.653000|2.653000	0.90120|0.90120	0.591000|0.591000	0.81541|0.81541	GCC|CCT	0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	protein_coding	OTTHUMT00000313657.2	56	260	1.75	0.00	1	0	C	NM_021110	0	0		121219208	1	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	59	237	16.9	17.99	12	52	SNP	1	T
TRAF2	7186	genome.wustl.edu	37	9	139811066	139811066	+	Splice_Site	SNP	C	C	A			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr9:139811066C>A	ENST00000247668.2	+	7	729	c.677C>A	c.(676-678)aCg>aAg	p.T226K	TRAF2_ENST00000359662.3_Splice_Site_p.T278K|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Splice_Site_p.T226K	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	226				Missing (in Ref. 2; BAB70792). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGCCTCGAGACGGTGAGTCGG	0.602																																							0											0													103.0	86.0	92.0					9																	139811066		2203	4300	6503	SO:0001630	splice_region_variant	0			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.678+1C>A	9.37:g.139811066C>A			A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.T278K	ENST00000247668.2	37	c.833	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	C	1.973	-0.435984	0.04636	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662	T;T;T	0.28454	1.61;1.61;1.61	4.74	3.53	0.40419	Zinc finger, TRAF-type (1);	0.572005	0.17439	N	0.174186	T	0.11750	0.0286	N	0.04148	-0.265	0.25963	N	0.98261	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.006;0.006;0.002	T	0.32798	-0.9893	10	0.02654	T	1	-14.8619	9.1186	0.36773	0.0:0.0986:0.0:0.9014	.	215;201;226	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	K	226;225;226;278	ENSP00000446414:T226K;ENSP00000247668:T226K;ENSP00000352685:T278K	ENSP00000247668:T226K	T	+	2	0	TRAF2	138930887	0.990000	0.36364	0.785000	0.31869	0.447000	0.32167	1.649000	0.37281	0.679000	0.31345	0.462000	0.41574	ACG	0	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.602	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	protein_coding	OTTHUMT00000055166.1	33	120	0	0.00	0	0	C	NM_021138	0	0	Missense_Mutation	139811066	1	no_errors	ENST00000359662	ensembl	human	known	74_37	missense	34	99	10.53	16.10	4	19	SNP	0.989	A
HCN4	10021	genome.wustl.edu	37	15	73617504	73617504	+	Silent	SNP	C	C	A			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr15:73617504C>A	ENST00000261917.3	-	6	2763	c.1770G>T	c.(1768-1770)gtG>gtT	p.V590V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	590					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCATGGAGGCCACCAGCTTCC	0.592																																							0											0													127.0	118.0	121.0					15																	73617504		2198	4297	6495	SO:0001819	synonymous_variant	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1770G>T	15.37:g.73617504C>A			Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.V590	ENST00000261917.3	37	c.1770	CCDS10248.1	15																																																																																			0	superfamily_cNMP-bd-like		0.592	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	protein_coding	OTTHUMT00000268900.2	36	110	0	0.90	0	1	C	NM_005477	0	0		73617504	-1	no_errors	ENST00000261917	ensembl	human	known	74_37	silent	30	107	21.05	11.57	8	14	SNP	1	A
MORC2	22880	genome.wustl.edu	37	22	31331005	31331005	+	Missense_Mutation	SNP	C	C	G			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr22:31331005C>G	ENST00000397641.3	-	19	2364	c.1956G>C	c.(1954-1956)aaG>aaC	p.K652N	MORC2_ENST00000469915.1_5'Flank|MORC2_ENST00000215862.4_Missense_Mutation_p.K590N|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	652						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AAGCAGGGAGCTTTGGGGTAC	0.617																																							0											0													42.0	45.0	44.0					22																	31331005		2203	4300	6503	SO:0001583	missense	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1956G>C	22.37:g.31331005C>G	ENSP00000380763:p.Lys652Asn		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.K652N	ENST00000397641.3	37	c.1956		22	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337749	0.24253	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12984	2.63;2.63	5.76	-0.524	0.11920	.	0.584721	0.18521	N	0.138780	T	0.11281	0.0275	L	0.43152	1.355	0.09310	N	0.999995	P	0.46706	0.883	B	0.39706	0.307	T	0.18085	-1.0348	10	0.52906	T	0.07	.	11.3712	0.49699	0.0:0.5658:0.0:0.4342	.	652	Q9Y6X9	MORC2_HUMAN	N	652;590	ENSP00000380763:K652N;ENSP00000215862:K590N	ENSP00000215862:K590N	K	-	3	2	MORC2	29661005	0.179000	0.23135	0.166000	0.22797	0.290000	0.27261	-0.189000	0.09629	0.090000	0.17273	-0.122000	0.15005	AAG	0	NULL		0.617	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	protein_coding	OTTHUMT00000321710.2	17	71	0	0.00	0	0	C	NM_014941	0	0		31331005	-1	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	21	74	25	16.85	7	15	SNP	0.044	G
PCDHA6	56142	genome.wustl.edu	37	5	140207965	140207965	+	Missense_Mutation	SNP	G	G	C	rs150162226	byFrequency	TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr5:140207965G>C	ENST00000529310.1	+	1	403	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGCGGGCGGAGCGC	0.577																																							0											0													111.0	127.0	121.0					5																	140207965		2203	4291	6494	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.289G>C	5.37:g.140207965G>C	ENSP00000433378:p.Gly97Arg		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G97R	ENST00000529310.1	37	c.289	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098477	0.20552	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.30981	1.51;1.51	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.213176	0.22539	U	0.058753	T	0.37945	0.1022	M	0.70595	2.14	0.26008	N	0.98203	D;P;P	0.56287	0.975;0.915;0.791	P;P;P	0.46389	0.515;0.49;0.51	T	0.34625	-0.9821	10	0.51188	T	0.08	.	12.2854	0.54789	0.0:0.1713:0.8287:0.0	.	97;97;97	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	97	ENSP00000433378:G97R;ENSP00000434113:G97R	ENSP00000434113:G97R	G	+	1	0	PCDHA6	140188149	0.984000	0.35163	1.000000	0.80357	0.243000	0.25628	5.505000	0.66981	2.139000	0.66308	0.313000	0.20887	GGG	0	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	105	0	0.94	0.00	1	0	G	NM_018909	rs150162226	G->C,T		140207965	1	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	116	0	11.45	0.00	15	0	SNP	0.985	C
GIGYF1	64599	genome.wustl.edu	37	7	100284306	100284306	+	Silent	SNP	C	C	T			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr7:100284306C>T	ENST00000275732.5	-	7	1869	c.660G>A	c.(658-660)cgG>cgA	p.R220R	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	220					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCCGTCTCGCCGGGGCCCTG	0.692																																							0											0													26.0	31.0	29.0					7																	100284306		2200	4289	6489	SO:0001819	synonymous_variant	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.660G>A	7.37:g.100284306C>T			Q6Y7W7|Q8WZ38	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R220	ENST00000275732.5	37	c.660	CCDS34708.1	7																																																																																			0	NULL		0.692	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	33	8	0	0.00	0	0	C	NM_022574	0	0		100284306	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	silent	34	8	8.11	0.00	3	0	SNP	1	T
SEC16A	9919	genome.wustl.edu	37	9	139342830	139342830	+	Missense_Mutation	SNP	T	T	G			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr9:139342830T>G	ENST00000313084.5	-	1	464	c.202A>C	c.(202-204)Acc>Ccc	p.T68P	SEC16A_ENST00000313050.7_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000398335.1_Missense_Mutation_p.T68P|SEC16A_ENST00000371706.3_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGGATGGAGGTGGGGGGCGAT	0.612																																							0											0																																										SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313084.5:c.202A>C	9.37:g.139342830T>G	ENSP00000317437:p.Thr68Pro		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.T68P	ENST00000313084.5	37	c.202		9	.	.	.	.	.	.	.	.	.	.	T	9.173	1.021534	0.19433	.	.	ENSG00000148396	ENST00000313084;ENST00000398335	.	.	.	1.35	1.35	0.21983	.	.	.	.	.	T	0.25382	0.0617	.	.	.	0.09310	N	1	P	0.46020	0.871	B	0.37451	0.25	T	0.13522	-1.0506	7	0.87932	D	0	.	6.8811	0.24173	0.0:0.0:0.0:1.0	.	68	Q8N9G1	.	P	68	.	ENSP00000317437:T68P	T	-	1	0	SEC16A	138462651	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-1.703000	0.01900	0.567000	0.29293	0.338000	0.21704	ACC	0	NULL		0.612	SEC16A-002	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055078.1	16	0	5.88	0.00	1	0	T	XM_088459	0	0		139342830	-1	no_errors	ENST00000313084	ensembl	human	known	74_37	missense	19	0	24	0.00	6	0	SNP	0.251	G
UNC93B1	81622	genome.wustl.edu	37	11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	rs4014596		TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																							0											1	Substitution - Missense(1)	skin(1)											2.0	2.0	2.0					11																	67759316		806	1754	2560	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	0	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		26	0	0	0.00	0	0	C	NM_030930	rs4014596	C->T		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	36	0	10	0.00	4	0	SNP	0.997	T
DNM1P47	100216544	genome.wustl.edu	37	15	102294758	102294758	+	RNA	SNP	G	G	A	rs370993817		TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr15:102294758G>A	ENST00000561463.1	+	0	2804									DNM1 pseudogene 47																		ACCTGTACTCGCGTGGGAACG	0.587																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294758G>A				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	13	1	6.67	0.00	1	0	G	NG_009149	rs370993817	G->A		102294758	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	30	5	16.67	0.00	6	0	SNP	0.988	A
NOTUM	147111	genome.wustl.edu	37	17	79918730	79918730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr17:79918730delC	ENST00000409678.3	-	1	439	c.56delG	c.(55-57)ggcfs	p.G19fs		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	19						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCTCGCTGCCCCCGGCGCA	0.791																																							0											0													4.0	4.0	4.0					17																	79918730		636	1457	2093	SO:0001589	frameshift_variant	0			BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.56delG	17.37:g.79918730delC	ENSP00000387310:p.Gly19fs		Q8N410|Q8NI82	Frame_Shift_Del	DEL	pfam_NOTUM	p.G19fs	ENST00000409678.3	37	c.56	CCDS32771.2	17																																																																																			0	NULL		0.791	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	protein_coding	OTTHUMT00000335123.2	14	2	0	0.00	0	0	C	NM_178493	0	0		79918730	-1	no_errors	ENST00000409678	ensembl	human	known	74_37	frame_shift_del	4	3	33.33	0.00	2	0	DEL	1	0
CAPNS1	826	genome.wustl.edu	37	19	36632025	36632030	+	In_Frame_Del	DEL	GGCGGC	GGCGGC	-	rs17881832		TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	GGCGGC	GGCGGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr19:36632025_36632030delGGCGGC	ENST00000246533.3	+	2	710_715	c.112_117delGGCGGC	c.(112-117)ggcggcdel	p.GG54del	CAPNS1_ENST00000588815.1_In_Frame_Del_p.GG54del|CAPNS1_ENST00000587718.1_In_Frame_Del_p.GG54del|CAPNS1_ENST00000590874.1_In_Frame_Del_p.GG54del|CAPNS1_ENST00000588780.1_In_Frame_Del_p.GG54del|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	54	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGCcgggggcggcggcggcggcg	0.757																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)		0											0																																										SO:0001651	inframe_deletion	0			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.112_117delGGCGGC	19.37:g.36632031_36632036delGGCGGC	ENSP00000246533:p.Gly54_Gly55del		A8K0P1|Q8WTX3|Q96EW0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.GG41in_frame_del	ENST00000246533.3	37	c.112_117	CCDS12489.1	19																																																																																			0	NULL		0.757	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	protein_coding	OTTHUMT00000457411.2	23	9	0	0.00	0	0	GGCGGC		0	0		36632030	1	no_errors	ENST00000588780	ensembl	human	known	74_37	in_frame_del	5	4	28.57	0.00	2	0	DEL	0.907:0.986:0.987:1.000:1.000:0.998	0
