#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_ORegAnno_bin	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
CABIN1	23523	genome.wustl.edu	37	22	24573575	24573575	+	Silent	SNP	C	C	T			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr22:24573575C>T	ENST00000398319.2	+	36	6694	c.6309C>T	c.(6307-6309)gcC>gcT	p.A2103A	CABIN1_ENST00000337989.7_Silent_p.A473A|CABIN1_ENST00000405822.2_Silent_p.A2024A|CABIN1_ENST00000263119.5_Silent_p.A2103A	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2103					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A2103A(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTCCAAGGCCCCCAGCAGTG	0.667																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											40.0	42.0	41.0					22																	24573575		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.6309C>T	22.37:g.24573575C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A2103	ENST00000398319.2	37	c.6309	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.667	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	48	0.00	0	C	NM_012295		24573575	24573575	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	0.970	T
EIF5	1983	genome.wustl.edu	37	14	103803097	103803097	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr14:103803097C>T	ENST00000216554.3	+	5	914	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.H80Y|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Missense_Mutation_p.H80Y	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	80					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.H80Y(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CAATGGATCTCATGAGGCGAA	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											134.0	122.0	126.0					14																	103803097		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.238C>T	14.37:g.103803097C>T	ENSP00000216554:p.His80Tyr		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain	p.H80Y	ENST00000216554.3	37	c.238	CCDS9980.1	14	.	.	.	.	.	.	.	.	.	.	.	29.2	4.983590	0.93044	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.42131	0.98;0.98	5.7	5.7	0.88788	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.85777	2.775	0.80722	D	1	P	0.37688	0.605	P	0.45071	0.468	T	0.65796	-0.6081	10	0.87932	D	0	-1.9257	19.8437	0.96701	0.0:1.0:0.0:0.0	.	80	P55010	IF5_HUMAN	Y	80	ENSP00000216554:H80Y;ENSP00000376477:H80Y	ENSP00000216554:H80Y	H	+	1	0	EIF5	102872850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.699000	0.92147	0.555000	0.69702	CAT	EIF5	-	pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,smart_Transl_init_fac_IF2/IF5	ENSG00000100664		0.383	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5	HGNC	protein_coding	OTTHUMT00000415329.2	174	0.00	0	C	NM_001969		103803097	103803097	+1	no_errors	ENST00000216554	ensembl	human	known	69_37n	missense	165	10.27	19	SNP	1.000	T
ETNK2	55224	genome.wustl.edu	37	1	204103702	204103702	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr1:204103702G>C	ENST00000367202.4	-	7	1179	c.1029C>G	c.(1027-1029)ttC>ttG	p.F343L	RP11-74C13.4_ENST00000565388.1_RNA|ETNK2_ENST00000367197.1_Missense_Mutation_p.F25L|ETNK2_ENST00000367199.2_Missense_Mutation_p.F274L|ETNK2_ENST00000367198.2_Missense_Mutation_p.F165L|ETNK2_ENST00000367201.3_Missense_Mutation_p.L379V	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	343					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.F343L(1)|p.L379V(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGAGCCCAGAAGAAGTGAG	0.557																																						dbGAP											2	Substitution - Missense(2)	breast(2)											91.0	83.0	86.0					1																	204103702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.1029C>G	1.37:g.204103702G>C	ENSP00000356170:p.Phe343Leu		B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.L379V	ENST00000367202.4	37	c.1135	CCDS1442.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.40|13.40|13.40	2.224584|2.224584|2.224584	0.39300|0.39300|0.39300	.|.|.	.|.|.	ENSG00000143845|ENSG00000143845|ENSG00000143845	ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000367197;ENST00000422699|ENST00000367201|ENST00000422072	T;T;T;T;T|T|.	0.64438|0.58652|.	-0.1;-0.1;-0.1;-0.1;0.32|0.32|.	5.58|5.58|5.58	3.7|3.7|3.7	0.42460|0.42460|0.42460	Protein kinase-like domain (1);|.|.	.|0.267972|.	.|0.19350|.	.|N|.	.|0.116422|.	T|T|T	0.49795|0.49795|0.49795	0.1578|0.1578|0.1578	L|L|L	0.33668|0.33668|0.33668	1.02|1.02|1.02	0.50632|0.50632|0.50632	D|D|D	0.999889|0.999889|0.999889	B;B|P|.	0.13145|0.35628|.	0.007;0.004|0.513|.	B;B|B|.	0.17098|0.31812|.	0.017;0.007|0.136|.	T|T|T	0.34576|0.34576|0.34576	-0.9823|-0.9823|-0.9823	9|10|5	0.29301|0.38643|.	T|T|.	0.29|0.18|.	-11.9729|-11.9729|-11.9729	8.5353|8.5353|8.5353	0.33360|0.33360|0.33360	0.0816:0.1537:0.7647:0.0|0.0816:0.1537:0.7647:0.0|0.0816:0.1537:0.7647:0.0	.|.|.	302;343|379|.	Q9NVF9-3;Q9NVF9|Q9NVF9-2|.	.;EKI2_HUMAN|.|.	L|V|C	343;274;209;165;25;209|379|106	ENSP00000356170:F343L;ENSP00000356167:F274L;ENSP00000356166:F165L;ENSP00000356165:F25L;ENSP00000405497:F209L|ENSP00000356169:L379V|.	ENSP00000356165:F25L|ENSP00000356169:L379V|.	F|L|S	-|-|-	3|1|2	2|2|0	ETNK2|ETNK2|ETNK2	202370325|202370325|202370325	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	0.537000|0.537000|0.537000	0.23144|0.23144|0.23144	0.692000|0.692000|0.692000	0.31613|0.31613|0.31613	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTG|TCT	ETNK2	-	NULL	ENSG00000143845		0.557	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1	99	0.00	0	G	NM_018208		204103702	204103702	-1	no_errors	ENST00000367201	ensembl	human	known	69_37n	missense	82	10.87	10	SNP	1.000	C
HSD17B10	3028	genome.wustl.edu	37	X	53460760	53460760	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chrX:53460760C>T	ENST00000168216.6	-	2	128	c.101G>A	c.(100-102)gGa>gAa	p.G34E	HSD17B10_ENST00000375304.5_Missense_Mutation_p.G34E|HSD17B10_ENST00000375298.4_Missense_Mutation_p.G34E|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	34					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)	p.G34E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						AGCAGAGGCTCCCTGCCCCAC	0.637																																						dbGAP											1	Substitution - Missense(1)	breast(1)											41.0	29.0	33.0					X																	53460760		2203	4299	6502	-	-	-	SO:0001583	missense	0			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.101G>A	X.37:g.53460760C>T	ENSP00000168216:p.Gly34Glu		Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH	p.G34E	ENST00000168216.6	37	c.101	CCDS14354.1	X	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235700	0.79800	.	.	ENSG00000072506	ENST00000168216;ENST00000375304;ENST00000375298	D;D;D	0.97529	-4.42;-4.42;-2.88	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	H	0.97390	3.995	0.80722	D	1	D;P	0.53462	0.96;0.947	P;P	0.59595	0.855;0.86	D	0.99486	1.0949	10	0.87932	D	0	.	17.2272	0.86973	0.0:1.0:0.0:0.0	.	34;34	Q99714-2;Q99714	.;HCD2_HUMAN	E	34	ENSP00000168216:G34E;ENSP00000364453:G34E;ENSP00000364447:G34E	ENSP00000168216:G34E	G	-	2	0	HSD17B10	53477485	1.000000	0.71417	0.827000	0.32855	0.141000	0.21300	4.940000	0.63533	2.334000	0.79466	0.513000	0.50165	GGA	HSD17B10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_DHB_DH	ENSG00000072506		0.637	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B10	HGNC	protein_coding	OTTHUMT00000056750.1	43	0.00	0	C	NM_004493		53460760	53460760	-1	no_errors	ENST00000168216	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	T
GABRE	2564	genome.wustl.edu	37	X	151128423	151128423	+	Silent	SNP	G	G	A			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chrX:151128423G>A	ENST00000370328.3	-	6	725	c.672C>T	c.(670-672)atC>atT	p.I224I	MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Silent_p.I31I|MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Silent_p.I224I	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	224					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.I111I(1)|p.I224I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCACTTGTAGATCATCTCAT	0.408																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											97.0	94.0	95.0					X																	151128423		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.672C>T	X.37:g.151128423G>A			E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.I224	ENST00000370328.3	37	c.672	CCDS14703.1	X																																																																																			GABRE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000102287		0.408	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	178	0.00	0	G	NM_004961, NM_021990, NM_021984		151128423	151128423	-1	no_errors	ENST00000370328	ensembl	human	known	69_37n	silent	178	10.00	20	SNP	0.249	A
FAM50A	9130	genome.wustl.edu	37	X	153674859	153674859	+	Silent	SNP	C	C	T			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chrX:153674859C>T	ENST00000393600.3	+	4	503	c.393C>T	c.(391-393)ggC>ggT	p.G131G		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	131					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G131G(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					aagagggaggcgaggaggaag	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											82.0	53.0	63.0					X																	153674859		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.393C>T	X.37:g.153674859C>T			A8KAQ4|B2R997|Q5HY37|Q6PJH5	Silent	SNP	pfam_XAP5	p.G131	ENST00000393600.3	37	c.393	CCDS14751.1	X																																																																																			FAM50A	-	pfam_XAP5	ENSG00000071859		0.617	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	160	0.00	0	C	NM_004699		153674859	153674859	+1	no_errors	ENST00000393600	ensembl	human	known	69_37n	silent	106	16.54	21	SNP	0.000	T
ILK	3611	genome.wustl.edu	37	11	6631001	6631001	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr11:6631001G>A	ENST00000396751.2	+	9	1359	c.903G>A	c.(901-903)atG>atA	p.M301I	ILK_ENST00000299421.4_Missense_Mutation_p.M301I|ILK_ENST00000420936.2_Missense_Mutation_p.M301I|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.M240I|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000537806.1_Missense_Mutation_p.M167I	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.M301I(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTTTGGACATGGCAAGGGGCA	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											136.0	123.0	128.0					11																	6631001		2201	4296	6497	-	-	-	SO:0001583	missense	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.903G>A	11.37:g.6631001G>A	ENSP00000379975:p.Met301Ile		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.M301I	ENST00000396751.2	37	c.903	CCDS7768.1	11	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744575	0.30865	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.136966	0.64402	D	0.000002	T	0.41511	0.1162	N	0.00018	-2.82	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63659	-0.6587	10	0.02654	T;T	1;1	.	9.0876	0.36590	0.0:0.2689:0.5824:0.1486	.	240;301	B7Z418;Q13418	.;ILK_HUMAN	I	301;167;301;240;301	ENSP00000299421:M301I;ENSP00000439606:M167I;ENSP00000403487:M301I;ENSP00000435323:M240I;ENSP00000379975:M301I	ENSP00000299421:M301I;ENSP00000299421:M301I	M	+	3	0	ILK	6587577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.214000	0.32419	2.775000	0.95449	0.655000	0.94253	ATG	ILK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000166333		0.537	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	101	0.00	0	G	NM_004517		6631001	6631001	+1	no_errors	ENST00000299421	ensembl	human	known	69_37n	missense	75	19.35	18	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210574677	210574677	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr2:210574677C>G	ENST00000360351.4	+	12	5278	c.4772C>G	c.(4771-4773)tCa>tGa	p.S1591*	MAP2_ENST00000361559.4_Nonsense_Mutation_p.S235*|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Nonsense_Mutation_p.S235*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.S1587*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.S292*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1591					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S1591*(1)|p.S292*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGTGGTACCTCAACACCCACT	0.527																																					Pancreas(27;423 979 28787 29963)	dbGAP											2	Substitution - Nonsense(2)	breast(2)											121.0	104.0	110.0					2																	210574677		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4772C>G	2.37:g.210574677C>G	ENSP00000353508:p.Ser1591*		Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.S1591*	ENST00000360351.4	37	c.4772	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.346402	0.99143	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	.	.	.	5.31	5.31	0.75309	.	0.000000	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.8969	19.3407	0.94339	0.0:1.0:0.0:0.0	.	.	.	.	X	292;1591;235;235;1587	.	ENSP00000199940:S292X	S	+	2	0	MAP2	210282922	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	7.421000	0.80204	2.629000	0.89072	0.563000	0.77884	TCA	MAP2	-	NULL	ENSG00000078018		0.527	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	155	0.00	0	C	NM_001039538		210574677	210574677	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	nonsense	107	10.08	12	SNP	1.000	G
MSX2	4488	genome.wustl.edu	37	5	174156269	174156269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr5:174156269C>T	ENST00000239243.6	+	2	614	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	163					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.Q163*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAGTTCCGTCAGAAACAGTA	0.572																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											67.0	60.0	63.0					5																	174156269		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.487C>T	5.37:g.174156269C>T	ENSP00000239243:p.Gln163*		D3DQN1|Q53XM4|Q9UD60	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q163*	ENST00000239243.6	37	c.487	CCDS4392.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.869218	0.97049	.	.	ENSG00000120149	ENST00000239243	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.2987	19.8548	0.96752	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000239243:Q163X	Q	+	1	0	MSX2	174088875	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.770000	0.85390	2.702000	0.92279	0.591000	0.81541	CAG	MSX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000120149		0.572	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX2	HGNC	protein_coding	OTTHUMT00000252981.3	82	0.00	0	C			174156269	174156269	+1	no_errors	ENST00000239243	ensembl	human	known	69_37n	nonsense	52	17.19	11	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	108	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	110	13.39	17	SNP	1.000	G
RGS7	6000	genome.wustl.edu	37	1	240976995	240976995	+	Silent	SNP	G	G	A			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr1:240976995G>A	ENST00000407727.1	-	12	878	c.879C>T	c.(877-879)taC>taT	p.Y293Y	RGS7_ENST00000348120.2_Silent_p.Y240Y|RGS7_ENST00000331110.7_Silent_p.Y267Y|RGS7_ENST00000401882.1_Silent_p.Y240Y|RGS7_ENST00000366562.4_Silent_p.Y293Y|RGS7_ENST00000366563.1_Silent_p.Y293Y|RGS7_ENST00000366564.1_Silent_p.Y293Y|RGS7_ENST00000446183.2_Silent_p.Y209Y|RGS7_ENST00000366565.1_Silent_p.Y293Y			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	293	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.Y293Y(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GAAACGGGTCGTATTCTAAAT	0.448																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											114.0	109.0	111.0					1																	240976995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.879C>T	1.37:g.240976995G>A			Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Y293	ENST00000407727.1	37	c.879		1																																																																																			RGS7	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom	ENSG00000182901		0.448	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		179	0.00	0	G	NM_002924		240976995	240976995	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	silent	122	29.31	51	SNP	0.963	A
TRPM2	7226	genome.wustl.edu	37	21	45833784	45833784	+	Silent	SNP	C	C	T			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr21:45833784C>T	ENST00000397928.1	+	20	3418	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F	TRPM2_ENST00000300482.5_Silent_p.F991F|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300481.9_Silent_p.F971F|TRPM2_ENST00000397932.2_Silent_p.F991F|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	991					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.F991F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGTGAACTTCAACCCGGAGC	0.632																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											146.0	155.0	152.0					21																	45833784		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2973C>T	21.37:g.45833784C>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.F991	ENST00000397928.1	37	c.2973	CCDS13710.1	21																																																																																			TRPM2	-	pfam_Ion_trans_dom	ENSG00000142185		0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	118	0.00	0	C	NM_003307		45833784	45833784	+1	no_errors	ENST00000300482	ensembl	human	known	69_37n	silent	61	16.00	12	SNP	0.999	T
TTLL1	25809	genome.wustl.edu	37	22	43435850	43435850	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YL-01A-21D-A10G-09	TCGA-A2-A0YL-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3cc80b41-603d-4735-85c7-71f540dc6e5c	f570e581-5f15-4113-93d7-a4bbeb7ec394	g.chr22:43435850G>C	ENST00000266254.7	-	11	1444	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.Q373E	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	402					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.Q402E(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CCCAGAGACTGACCCTGACGG	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											68.0	70.0	69.0					22																	43435850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1204C>G	22.37:g.43435850G>C	ENSP00000266254:p.Gln402Glu		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q402E	ENST00000266254.7	37	c.1204	CCDS14043.1	22	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780377	0.31502	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.08807	3.05;3.05	5.57	4.54	0.55810	.	0.251253	0.41001	D	0.000970	T	0.08313	0.0207	L	0.47716	1.5	0.80722	D	1	B;B	0.19817	0.039;0.026	B;B	0.16722	0.016;0.01	T	0.07635	-1.0762	10	0.02654	T	1	.	15.7921	0.78372	0.0:0.0:0.8625:0.1375	.	373;402	O95922-4;O95922	.;TTLL1_HUMAN	E	373;402	ENSP00000333734:Q373E;ENSP00000266254:Q402E	ENSP00000266254:Q402E	Q	-	1	0	TTLL1	41765794	1.000000	0.71417	0.011000	0.14972	0.018000	0.09664	6.318000	0.72866	1.343000	0.45638	0.579000	0.79373	CAG	TTLL1	-	NULL	ENSG00000100271		0.592	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	47	0.00	0	G	NM_012263		43435850	43435850	-1	no_errors	ENST00000266254	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.847	C
