#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
CDH11	1009	genome.wustl.edu	37	16	65032486	65032486	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr16:65032486C>T	ENST00000268603.4	-	4	1117	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	CDH11_ENST00000394156.3_Missense_Mutation_p.V168M|CDH11_ENST00000566827.1_Missense_Mutation_p.V42M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	168	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V168M(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTCTCAGGCACGTTGGCATGA	0.587			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												dbGAP		Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(2)|breast(1)											130.0	119.0	123.0					16																	65032486		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.502G>A	16.37:g.65032486C>T	ENSP00000268603:p.Val168Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V168M	ENST00000268603.4	37	c.502	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671816	0.88348	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.58358	0.34;0.34	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82491	-0.0431	10	0.87932	D	0	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	168;168	P55287-2;P55287	.;CAD11_HUMAN	M	168;168;151	ENSP00000268603:V168M;ENSP00000377711:V168M	ENSP00000268603:V168M	V	-	1	0	CDH11	63589987	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.609000	0.82925	2.884000	0.98904	0.655000	0.94253	GTG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000140937		0.587	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	295	0.00	0	C	NM_033664		65032486	65032486	-1	no_errors	ENST00000268603	ensembl	human	known	69_37n	missense	46	67.38	95	SNP	1.000	T
CDH17	1015	genome.wustl.edu	37	8	95158390	95158391	+	Frame_Shift_Ins	INS	-	-	C	rs537643053	byFrequency	TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr8:95158390_95158391insC	ENST00000027335.3	-	15	2056_2057	c.1932_1933insG	c.(1930-1935)gggtctfs	p.S645fs	CDH17_ENST00000441892.2_Frame_Shift_Ins_p.S431fs|CDH17_ENST00000450165.2_Frame_Shift_Ins_p.S645fs	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTCAAGGAAGACCCCCCTAAGG	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1933dupG	8.37:g.95158396_95158396dupC	ENSP00000027335:p.Ser645fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15336|Q2M2E0	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S644fs	ENST00000027335.3	37	c.1933_1932	CCDS6260.1	8																																																																																			CDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000079112		0.436	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	121	0.00	0	-	NM_004063		95158390	95158391	-1	no_errors	ENST00000027335	ensembl	human	known	69_37n	frame_shift_ins	113	30.25	49	INS	0.027:0.000	C
COL7A1	1294	genome.wustl.edu	37	3	48609590	48609590	+	Silent	SNP	G	G	A			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr3:48609590G>A	ENST00000328333.8	-	90	7100	c.6993C>T	c.(6991-6993)gaC>gaT	p.D2331D	COL7A1_ENST00000454817.1_Silent_p.D2299D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2331	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D2331D(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGTCCTCGGTCACCTTTGG	0.607																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											36.0	32.0	33.0					3																	48609590		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6993C>T	3.37:g.48609590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D2331	ENST00000328333.8	37	c.6993	CCDS2773.1	3																																																																																			COL7A1	-	pfam_Collagen	ENSG00000114270		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	35	0.00	0	G	NM_000094		48609590	48609590	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	0.990	A
GSPT2	23708	genome.wustl.edu	37	X	51488353	51488353	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chrX:51488353A>C	ENST00000340438.4	+	1	1873	c.1631A>C	c.(1630-1632)cAc>cCc	p.H544P		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	544					cell cycle (GO:0007049)|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)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.H544P(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GCGGTGCTGCACATTCATACT	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											177.0	146.0	156.0					X																	51488353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1631A>C	X.37:g.51488353A>C	ENSP00000341247:p.His544Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.H544P	ENST00000340438.4	37	c.1631	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808598	0.50421	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.38401	1.14	4.75	4.75	0.60458	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78778	-0.2071	10	0.72032	D	0.01	-7.0067	11.5193	0.50541	1.0:0.0:0.0:0.0	.	544	Q8IYD1	ERF3B_HUMAN	P	544;461	ENSP00000341247:H544P	ENSP00000341247:H544P	H	+	2	0	GSPT2	51505093	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.617000	0.74210	2.086000	0.62901	0.483000	0.47432	CAC	GSPT2	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C	ENSG00000189369		0.423	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	286	0.00	0	A			51488353	51488353	+1	no_errors	ENST00000340438	ensembl	human	known	69_37n	missense	162	43.40	125	SNP	1.000	C
MCMBP	79892	genome.wustl.edu	37	10	121591584	121591584	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr10:121591584C>T	ENST00000360003.3	-	15	1911	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.R579Q	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	581					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R581Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GTCGTTCTTCCGCATTTCCAC	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											148.0	119.0	129.0					10																	121591584		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1742G>A	10.37:g.121591584C>T	ENSP00000353098:p.Arg581Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	pfam_MCM_complex-bd	p.R581Q	ENST00000360003.3	37	c.1742	CCDS7617.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.146745	0.97324	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.86314	0.5903	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87824	0.2640	9	0.87932	D	0	-15.1515	20.422	0.99049	0.0:1.0:0.0:0.0	.	581	Q9BTE3	MCMBP_HUMAN	Q	581;579	.	ENSP00000353098:R581Q	R	-	2	0	MCMBP	121581574	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.738000	0.84966	2.832000	0.97577	0.655000	0.94253	CGG	MCMBP	-	pfam_MCM_complex-bd	ENSG00000197771		0.428	MCMBP-002	KNOWN	basic|CCDS	protein_coding	MCMBP	HGNC	protein_coding	OTTHUMT00000050684.1	123	0.00	0	C	NM_024834		121591584	121591584	-1	no_errors	ENST00000360003	ensembl	human	known	69_37n	missense	99	26.67	36	SNP	1.000	T
NIM1K	167359	genome.wustl.edu	37	5	43277278	43277278	+	Missense_Mutation	SNP	G	G	A	rs534141752		TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr5:43277278G>A	ENST00000512796.1	+	3	1911	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	NIM1_ENST00000326035.2_Missense_Mutation_p.E138K			Q8IY84	NIM1_HUMAN		138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E138K(1)									CCGCCTTTACGAAGTGGTGGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20242	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											101.0	97.0	98.0					5																	43277278		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000512796.1:c.412G>A	5.37:g.43277278G>A	ENSP00000420849:p.Glu138Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVM1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E138K	ENST00000512796.1	37	c.412	CCDS3943.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.516068	0.96402	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.26223	1.75;1.75	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54344	-0.8308	10	0.72032	D	0.01	.	19.6629	0.95879	0.0:0.0:1.0:0.0	.	138	Q8IY84	NIM1_HUMAN	K	138	ENSP00000313572:E138K;ENSP00000420849:E138K	ENSP00000313572:E138K	E	+	1	0	AC114947.1	43313035	1.000000	0.71417	0.813000	0.32504	0.775000	0.43874	9.827000	0.99397	2.654000	0.90174	0.555000	0.69702	GAA	AC114947.1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000177453		0.522	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NIM1	Clone_based_vega_gene	protein_coding	OTTHUMT00000368017.1	367	0.00	0	G			43277278	43277278	+1	no_errors	ENST00000326035	ensembl	human	known	69_37n	missense	165	39.11	106	SNP	1.000	A
NRXN2	9379	genome.wustl.edu	37	11	64457918	64457919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr11:64457918_64457919insC	ENST00000377551.1	-	4	1019_1020	c.808_809insG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.A270fs|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000265459.6_Frame_Shift_Ins_p.A270fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTCTCCCGGCCCCCCCCTCG	0.634																																						dbGAP											1	Insertion - Frameshift(1)	central_nervous_system(1)							,	56,4208		0,56,2076					,	4.6	1.0			37	73,8181		0,73,4054	no	intron,frameshift	NRXN2	NM_138732.2,NM_015080.3	,	0,129,6130	A1A1,A1R,RR		0.8844,1.3133,1.0305	,	,		129,12389				-	-	-	SO:0001589	frameshift_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.809dupG	11.37:g.64457926_64457926dupC	ENSP00000366774:p.Ala270fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C1|Q9Y2D6	Frame_Shift_Ins	INS	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A270fs	ENST00000377551.1	37	c.809_808	CCDS8077.1	11																																																																																			NRXN2	-	NULL	ENSG00000110076		0.634	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	27	0.00	0	-	NM_015080		64457918	64457919	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	1.000:1.000	C
OR2G3	81469	genome.wustl.edu	37	1	247769321	247769321	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr1:247769321C>T	ENST00000320002.2	+	1	466	c.434C>T	c.(433-435)gCa>gTa	p.A145V	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A145V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAACAGCTGGCATCTATCTCC	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											172.0	160.0	164.0					1																	247769321		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.434C>T	1.37:g.247769321C>T	ENSP00000326301:p.Ala145Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A145V	ENST00000320002.2	37	c.434	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	C	2.879	-0.232188	0.05983	.	.	ENSG00000177476	ENST00000320002	T	0.34472	1.36	3.8	-1.85	0.07784	GPCR, rhodopsin-like superfamily (1);	0.206931	0.23008	N	0.052996	T	0.16599	0.0399	N	0.04686	-0.185	0.09310	N	1	B	0.29481	0.245	B	0.39094	0.29	T	0.28933	-1.0028	10	0.23302	T	0.38	.	5.1634	0.15073	0.0:0.4394:0.2826:0.278	.	145	Q8NGZ4	OR2G3_HUMAN	V	145	ENSP00000326301:A145V	ENSP00000326301:A145V	A	+	2	0	OR2G3	245835944	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-2.958000	0.00674	-0.213000	0.10094	-0.463000	0.05309	GCA	OR2G3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177476		0.488	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	586	0.00	0	C			247769321	247769321	+1	no_errors	ENST00000320002	ensembl	human	known	69_37n	missense	353	41.46	250	SNP	0.003	T
OR2T33	391195	genome.wustl.edu	37	1	248436408	248436408	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr1:248436408C>A	ENST00000318021.2	-	1	730	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GAGCAGGTGGCAAAGGCCTTC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											29.0	34.0	32.0					1																	248436408		2201	4280	6481	-	-	-	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.709G>T	1.37:g.248436408C>A	ENSP00000324687:p.Ala237Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A237S	ENST00000318021.2	37	c.709	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	9.484	1.098960	0.20552	.	.	ENSG00000177212	ENST00000318021	T	0.00013	9.28	1.77	-0.281	0.12882	GPCR, rhodopsin-like superfamily (1);	0.795910	0.10223	N	0.700685	T	0.00039	0.0001	N	0.02103	-0.685	0.24157	N	0.995677	B	0.30889	0.299	B	0.34824	0.19	T	0.00204	-1.1923	10	0.36615	T	0.2	.	2.7271	0.05217	0.3854:0.3054:0.0:0.3091	.	237	Q8NG76	O2T33_HUMAN	S	237	ENSP00000324687:A237S	ENSP00000324687:A237S	A	-	1	0	OR2T33	246503031	0.000000	0.05858	0.971000	0.41717	0.780000	0.44128	-0.653000	0.05360	-0.074000	0.12820	-0.478000	0.04885	GCC	OR2T33	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000177212		0.512	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	222	0.00	0	C	NM_001004695		248436408	248436408	-1	no_errors	ENST00000318021	ensembl	human	known	69_37n	missense	142	36.61	82	SNP	0.992	A
OVCH1	341350	genome.wustl.edu	37	12	29604408	29604408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr12:29604408C>T	ENST00000318184.5	-	22	2624	c.2625G>A	c.(2623-2625)tgG>tgA	p.W875*	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	875	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.W875*(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTCTGAGCACCCAAGAACATT	0.438																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											87.0	82.0	84.0					12																	29604408		1882	4109	5991	-	-	-	SO:0001587	stop_gained	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2625G>A	12.37:g.29604408C>T	ENSP00000326708:p.Trp875*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6	p.W875*	ENST00000318184.5	37	c.2625		12	.	.	.	.	.	.	.	.	.	.	C	37	5.989032	0.97179	.	.	ENSG00000187950	ENST00000318184	.	.	.	3.02	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7809	0.40647	0.0:1.0:0.0:0.0	.	.	.	.	X	875	.	ENSP00000326708:W875X	W	-	3	0	OVCH1	29495675	0.477000	0.25909	0.711000	0.30485	0.665000	0.39181	0.920000	0.28705	1.996000	0.58369	0.561000	0.74099	TGG	OVCH1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000187950		0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	63	0.00	0	C	NM_183378		29604408	29604408	-1	no_errors	ENST00000318184	ensembl	human	known	69_37n	nonsense	60	34.78	32	SNP	0.802	T
PFKP	5214	genome.wustl.edu	37	10	3172105	3172106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr10:3172105_3172106insG	ENST00000381125.4	+	17	1854_1855	c.1778_1779insG	c.(1777-1782)atggggfs	p.MG593fs	PFKP_ENST00000381072.1_Frame_Shift_Ins_p.MG11fs|PFKP_ENST00000381075.2_Frame_Shift_Ins_p.MG585fs	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	593	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTCG	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1785dupG	10.37:g.3172112_3172112dupG	ENSP00000370517:p.Met593fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS15|Q5VSR7|Q5VSR8	Frame_Shift_Ins	INS	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.L596fs	ENST00000381125.4	37	c.1778_1779	CCDS7059.1	10																																																																																			PFKP	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000067057		0.639	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1	24	0.00	0	-	NM_002627		3172105	3172106	+1	no_errors	ENST00000381125	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	1.000:1.000	G
PRICKLE2	166336	genome.wustl.edu	37	3	64133064	64133064	+	Missense_Mutation	SNP	C	C	T	rs544405738		TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr3:64133064C>T	ENST00000295902.6	-	7	1687	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.D424N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	368					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D368N(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTCTACGTCGGCTGACAGC	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											90.0	102.0	98.0					3																	64133064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1102G>A	3.37:g.64133064C>T	ENSP00000295902:p.Asp368Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D368N	ENST00000295902.6	37	c.1102	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180995	0.38511	.	.	ENSG00000163637	ENST00000295902	T	0.60299	0.2	6.08	6.08	0.98989	.	0.068456	0.64402	D	0.000016	T	0.59945	0.2231	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.53760	0.734	T	0.60762	-0.7199	10	0.54805	T	0.06	-35.853	20.6634	0.99662	0.0:1.0:0.0:0.0	.	368	Q7Z3G6	PRIC2_HUMAN	N	368	ENSP00000295902:D368N	ENSP00000295902:D368N	D	-	1	0	PRICKLE2	64108104	1.000000	0.71417	0.814000	0.32528	0.012000	0.07955	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GAC	PRICKLE2	-	NULL	ENSG00000163637		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1	108	0.00	0	C	NM_198859		64133064	64133064	-1	no_errors	ENST00000295902	ensembl	human	known	69_37n	missense	34	54.05	40	SNP	1.000	T
PTAR1	375743	genome.wustl.edu	37	9	72338284	72338284	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr9:72338284A>C	ENST00000340434.4	-	6	908	c.905T>G	c.(904-906)cTt>cGt	p.L302R	PTAR1_ENST00000377200.5_Missense_Mutation_p.L223R	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	302					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)	p.L302R(1)|p.L302H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GGAATCAATAAGATCAGTGCT	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(1)|kidney(1)											184.0	180.0	181.0					9																	72338284		1864	4107	5971	-	-	-	SO:0001583	missense	0			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.905T>G	9.37:g.72338284A>C	ENSP00000344299:p.Leu302Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.L302R	ENST00000340434.4	37	c.905	CCDS47978.1	9	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509906	0.85282	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.46451	0.87;0.87	5.99	5.99	0.97316	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62642	-0.6811	10	0.37606	T	0.19	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	302	Q7Z6K3	PTAR1_HUMAN	R	223;302	ENSP00000366405:L223R;ENSP00000344299:L302R	ENSP00000344299:L302R	L	-	2	0	PTAR1	71528104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.296000	0.96104	2.291000	0.77112	0.533000	0.62120	CTT	PTAR1	-	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	ENSG00000188647		0.398	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	341	0.00	0	A	NM_001099666		72338284	72338284	-1	no_errors	ENST00000340434	ensembl	human	known	69_37n	missense	227	34.20	118	SNP	1.000	C
SLC45A4	57210	genome.wustl.edu	37	8	142228731	142228731	+	Silent	SNP	G	G	A			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr8:142228731G>A	ENST00000024061.3	-	4	1162	c.855C>T	c.(853-855)caC>caT	p.H285H	SLC45A4_ENST00000519067.1_Silent_p.H285H|SLC45A4_ENST00000433583.2_Silent_p.H278H|SLC45A4_ENST00000517878.1_Silent_p.H336H	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.H285H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGAGGCGTCGTGGAAGATGG	0.677																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											47.0	50.0	49.0					8																	142228731		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.855C>T	8.37:g.142228731G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRI2|Q9ULU3	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.H336	ENST00000024061.3	37	c.1008	CCDS34948.1	8																																																																																			SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	25	0.00	0	G	XM_050325		142228731	142228731	-1	no_errors	ENST00000517878	ensembl	human	known	69_37n	silent	1	85.71	12	SNP	0.363	A
SLC4A4	8671	genome.wustl.edu	37	4	72429510	72429510	+	Splice_Site	SNP	T	T	C			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr4:72429510T>C	ENST00000264485.5	+	24	3217	c.3100T>C	c.(3100-3102)Tct>Cct	p.S1034P	SLC4A4_ENST00000351898.6_Splice_Site_p.S950P|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000340595.3_Splice_Site_p.S990P	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1034					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S990P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTTTTCACAGTCTGACTGCCC	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											123.0	133.0	129.0					4																	72429510		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3100-1T>C	4.37:g.72429510T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.S1034P	ENST00000264485.5	37	c.3100	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296661	0.60086	.	.	ENSG00000080493	ENST00000264485;ENST00000351898;ENST00000340595	T;T;T	0.78707	-1.2;-0.85;-1.2	5.59	5.59	0.84812	.	0.316995	0.29266	N	0.012660	T	0.77611	0.4156	N	0.21583	0.68	0.80722	D	1	D;B;B	0.60575	0.988;0.009;0.019	P;B;B	0.58660	0.843;0.043;0.014	T	0.76645	-0.2883	9	.	.	.	.	15.771	0.78167	0.0:0.0:0.0:1.0	.	950;990;1034	Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	P	1034;950;990	ENSP00000264485:S1034P;ENSP00000307349:S950P;ENSP00000344272:S990P	.	S	+	1	0	SLC4A4	72648374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.579000	0.82511	2.130000	0.65690	0.482000	0.46254	TCT	SLC4A4	-	tigrfam_HCO3_transpt_euk	ENSG00000080493		0.363	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	186	0.00	0	T	NM_003759	Missense_Mutation	72429510	72429510	+1	no_errors	ENST00000264485	ensembl	human	known	69_37n	missense	120	41.18	84	SNP	1.000	C
SYNPO2L	79933	genome.wustl.edu	37	10	75408227	75408227	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JI-01A-21W-A100-09	TCGA-AO-A0JI-10A-01W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	861297ec-2c88-4717-ae63-eb8e21fe8c52	f1f91ae3-80bd-40ed-b495-d8dd96299105	g.chr10:75408227G>A	ENST00000394810.2	-	4	1332	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R171C	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	395						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R171C(1)|p.R395C(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGCGCTGGCGCTGCTGTTCA	0.672																																						dbGAP											2	Substitution - Missense(2)	breast(2)											51.0	52.0	52.0					10																	75408227		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1183C>T	10.37:g.75408227G>A	ENSP00000378289:p.Arg395Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV9|Q68A20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R395C	ENST00000394810.2	37	c.1183	CCDS44438.1	10	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948591	0.53186	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.39056	1.1;2.65;2.65	4.7	4.7	0.59300	.	0.148264	0.43260	D	0.000596	T	0.59088	0.2168	M	0.61703	1.905	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.61633	-0.7023	10	0.87932	D	0	-9.8137	10.8433	0.46728	0.0:0.0:0.6741:0.3259	.	395;171	Q9H987;Q9H987-2	SYP2L_HUMAN;.	C	171;395;395	ENSP00000361964:R171C;ENSP00000361963:R395C;ENSP00000378289:R395C	ENSP00000361963:R395C	R	-	1	0	SYNPO2L	75078233	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.432000	0.44784	2.456000	0.83038	0.491000	0.48974	CGC	SYNPO2L	-	NULL	ENSG00000166317		0.672	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	33	0.00	0	G	NM_024875		75408227	75408227	-1	no_errors	ENST00000394810	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	A
