#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_Chromosome_hg18	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_End_position_hg18	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
HSP90B3P	343477	genome.wustl.edu	37	1	92108588	92108588	+	IGR	SNP	T	T	C			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr1:92108588T>C								CDC7 (117267 upstream) : TGFBR3 (37313 downstream)																							CCCTTGAGACTCTTCAGCAAC	0.383																																						dbGAP											0			1																																								91881176	SO:0001628	intergenic_variant	0																															1.37:g.92108588T>C		1531	0.00	0		121	0.00	0	91881176	1050	39.66	690		Silent	SNP	superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90,superfamily_SSF110942	p.T205		37	c.615		1																																																																																			-	superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90	0	0.383					HSP90B3P			T			91881176	+1	no_errors	ENST00000370405	ensembl	human	known	54_36p	silent	SNP	0.990	C
DDR2	4921	genome.wustl.edu	37	1	162731018	162731018	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr1:162731018G>A	ENST00000367922.3	+	10	1311	c.873G>A	c.(871-873)atG>atA	p.M291I	DDR2_ENST00000367921.3_Missense_Mutation_p.M291I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	291					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M291I(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GCAACAACATGTTTGCTAAAG	0.507																																					NSCLC(161;314 2006 8283 19651 23192)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											159.0	117.0	131.0					1																	162731018		2203	4300	6503	160997642	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.873G>A	1.37:g.162731018G>A	ENSP00000356899:p.Met291Ile	1484	0.07	1		NA	NA	NA	160997642	1076	43.99	845	Q7Z730	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,PatternScan_PROTEIN_KINASE_TYR,superfamily_Gal_bind_like,superfamily_Kinase_like	p.M291I	ENST00000367922.3	37	c.873	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901841	0.92035	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.57273	0.41;0.41	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.76002	2.32	0.36932	D	0.891912	P	0.43542	0.81	B	0.43155	0.41	T	0.60265	-0.7297	9	0.62326	D	0.03	.	18.8112	0.92058	0.0:0.0:1.0:0.0	.	291	Q16832	DDR2_HUMAN	I	291	ENSP00000356899:M291I;ENSP00000356898:M291I	ENSP00000356898:M291I	M	+	3	0	DDR2	160997642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.041000	0.93788	2.763000	0.94921	0.655000	0.94253	ATG	-	NULL		0.507	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	G	NM_006182		160997642	+1	no_errors	NM_001014796.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SHQ1	55164	genome.wustl.edu	37	3	72866458	72866458	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr3:72866458G>C	ENST00000325599.8	-	7	944	c.805C>G	c.(805-807)Cgt>Ggt	p.R269G	SHQ1_ENST00000463369.1_Missense_Mutation_p.R241G	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	269					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R269G(1)|p.R269S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CACACTTGACGACAGGCTCTC	0.383																																						dbGAP											2	Substitution - Missense(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	3											151.0	135.0	141.0					3																	72866458		2203	4299	6502	72949148	SO:0001583	missense	0			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.805C>G	3.37:g.72866458G>C	ENSP00000315182:p.Arg269Gly	1359	0.00	0		14	41.67	10	72949148	892	38.36	555	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	HMMPfam_SHQ1,superfamily_HSP20_chap,HMMPfam_CS	p.R269G	ENST00000325599.8	37	c.805	CCDS33788.1	3	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776710	0.31411	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.32988	1.45;1.43	5.79	0.241	0.15494	SHQ1 protein (1);	0.849897	0.10755	N	0.637868	T	0.27454	0.0674	L	0.38175	1.15	0.09310	N	1	P	0.46064	0.872	P	0.48488	0.579	T	0.20974	-1.0259	10	0.21540	T	0.41	-10.8533	7.4868	0.27439	0.2774:0.0:0.6115:0.1111	.	269	Q6PI26	SHQ1_HUMAN	G	269;241	ENSP00000315182:R269G;ENSP00000417452:R241G	ENSP00000315182:R269G	R	-	1	0	SHQ1	72949148	0.012000	0.17670	0.025000	0.17156	0.868000	0.49771	1.034000	0.30204	0.081000	0.16988	-0.293000	0.09583	CGT	-	HMMPfam_SHQ1		0.383	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHQ1	protein_coding	OTTHUMT00000352310.1	G	NM_018130		72949148	-1	no_errors	NM_018130.2	genbank	human	validated	54_36p	missense	SNP	0.063	C
COL11A2	1302	genome.wustl.edu	37	6	33151995	33151995	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr6:33151995C>T	ENST00000341947.2	-	8	1273	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	COL11A2_ENST00000357486.1_Missense_Mutation_p.G328D|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G323D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G302D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	349	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G349D(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCCCCATAGCCATAGGTGTA	0.577																																					Melanoma(1;90 116 3946 5341 17093)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											75.0	74.0	74.0					6																	33151995		2203	4300	6503	33259973	SO:0001583	missense	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1046G>A	6.37:g.33151995C>T	ENSP00000339915:p.Gly349Asp	663	0.00	0		NA	NA	NA	33259973	195	37.38	117	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00282,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.G349D	ENST00000341947.2	37	c.1046		6	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447263	0.25987	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.90197	-2.24;-2.36;-2.38;-2.3;-2.63	3.74	2.84	0.33178	.	1.784490	0.03269	N	0.184458	T	0.82263	0.4999	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.78971	-0.1993	10	0.12766	T	0.61	.	9.1737	0.37098	0.0:0.777:0.223:0.0	.	349	P13942	COBA2_HUMAN	D	349;328;323;302;349	ENSP00000339915:G349D;ENSP00000350079:G328D;ENSP00000363846:G323D;ENSP00000363845:G302D;ENSP00000405520:G349D	ENSP00000339915:G349D	G	-	2	0	COL11A2	33259973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.137000	0.31479	1.106000	0.41623	0.549000	0.68633	GGC	-	NULL		0.577	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	protein_coding		C			33259973	-1	no_errors	NM_080680.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
SEPT14	346288	genome.wustl.edu	37	7	55902220	55902220	+	Silent	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr7:55902220C>T	ENST00000388975.3	-	6	734	c.618G>A	c.(616-618)acG>acA	p.T206T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	206	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.T206T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATTCTTAAACGTCTGTAAAT	0.348																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7											106.0	98.0	101.0					7																	55902220		2203	4300	6503	55869714	SO:0001819	synonymous_variant	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.618G>A	7.37:g.55902220C>T		873	0.00	0		0	0.00	0	55869714	837	39.70	551	A6NCC2|B4DXD6	Silent	SNP	HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T206	ENST00000388975.3	37	c.618	CCDS5519.2	7																																																																																			-	HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55869714	-1	no_errors	NM_207366.2	genbank	human	validated	54_36p	silent	SNP	0.808	T
PPP1R9A	55607	genome.wustl.edu	37	7	94879489	94879489	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr7:94879489A>G	ENST00000433881.1	+	9	2784	c.2252A>G	c.(2251-2253)aAa>aGa	p.K751R	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K751R|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K751R|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.K751R|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K751R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K773R			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	751	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.K751R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGCATCTCAAAGAGACTCAA	0.383										HNSCC(28;0.073)																												dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											79.0	74.0	75.0					7																	94879489		2203	4300	6503	94717425	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2252A>G	7.37:g.94879489A>G	ENSP00000398870:p.Lys751Arg	1282	0.08	1		NA	NA	NA	94717425	827	40.98	575	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2	p.K751R	ENST00000433881.1	37	c.2252	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566946	0.65651	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16743	2.32;2.35;2.34;2.35;2.35;2.34	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.54323	1.7	0.53688	D	0.999974	B;P;P;D;D	0.76494	0.409;0.729;0.729;0.999;0.968	B;P;B;D;P	0.80764	0.168;0.544;0.439;0.994;0.476	T	0.02075	-1.1218	10	0.28530	T	0.3	.	15.5801	0.76428	1.0:0.0:0.0:0.0	.	751;751;773;751;751	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	R	773;751;751;751;751;751	ENSP00000405514:K773R;ENSP00000344524:K751R;ENSP00000411342:K751R;ENSP00000398870:K751R;ENSP00000289495:K751R;ENSP00000402893:K751R	ENSP00000289495:K751R	K	+	2	0	PPP1R9A	94717425	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	6.118000	0.71583	2.326000	0.78906	0.533000	0.62120	AAA	-	NULL		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	protein_coding	OTTHUMT00000340662.1	A	NM_001166160		94717425	+1	no_errors	NM_017650.2	genbank	human	validated	54_36p	missense	SNP	1.000	G
HTR5A	3361	genome.wustl.edu	37	7	154862893	154862893	+	Missense_Mutation	SNP	C	C	G	rs144847277		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr7:154862893C>G	ENST00000287907.2	+	1	860	c.284C>G	c.(283-285)cCg>cGg	p.P95R	HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.G41R|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.G41R	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	95					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.P95R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGGTCATGCCGCTGAGCCTG	0.682																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											56.0	43.0	48.0					7																	154862893		2203	4299	6502	154493826	SO:0001583	missense	0				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.284C>G	7.37:g.154862893C>G	ENSP00000287907:p.Pro95Arg	584	0.00	0		NA	NA	NA	154493826	378	39.62	248	Q2M2D2	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.P95R	ENST00000287907.2	37	c.284	CCDS5936.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.830688|4.830688	0.91036|0.91036	.|.	.|.	ENSG00000220575|ENSG00000157219	ENST00000395731;ENST00000543018|ENST00000287907	.|T	.|0.52057	.|0.68	4.52|4.52	4.52|4.52	0.55395|0.55395	.|GPCR, rhodopsin-like superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79627|0.79627	0.4478|0.4478	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	D|D	0.87449|0.87449	0.2400|0.2400	8|10	0.87932|0.87932	D|D	0|0	.|.	17.4477|17.4477	0.87583|0.87583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41|95	B7Z8E6|P47898	.|5HT5A_HUMAN	R|R	41|95	.|ENSP00000287907:P95R	ENSP00000379080:G41R|ENSP00000287907:P95R	G|P	-|+	1|2	0|0	AC093726.4|HTR5A	154493826|154493826	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.926000|0.926000	0.56050|0.56050	7.331000|7.331000	0.79192|0.79192	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	GGC|CCG	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.682	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	protein_coding	OTTHUMT00000322240.1	C	NM_024012		154493826	+1	no_errors	NM_024012.2	genbank	human	reviewed	54_36p	missense	SNP	0.994	G
ABL1	25	genome.wustl.edu	37	9	133760430	133760430	+	Missense_Mutation	SNP	C	C	T	rs372727500		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr9:133760430C>T	ENST00000318560.5	+	11	3134	c.2753C>T	c.(2752-2754)cCg>cTg	p.P918L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	918	DNA-binding. {ECO:0000250}.|Pro-rich.			SPS -> RPG (in Ref. 1; AAA51561). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.P918L(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCGCAGAGCCCGAGCCAGGAG	0.662			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	dbGAP		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	9						C	LEU/PRO,LEU/PRO	2,4334		0,2,2166	11.0	15.0	14.0		2753,2810	2.2	1.0	9		14	0,8554		0,0,4277	no	missense,missense	ABL1	NM_005157.4,NM_007313.2	98,98	0,2,6443	TT,TC,CC		0.0,0.0461,0.0155	benign,benign	918/1131,937/1150	133760430	2,12888	2168	4277	6445	132750251	SO:0001583	missense	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2753C>T	9.37:g.133760430C>T	ENSP00000323315:p.Pro918Leu	380	0.00	0		18	43.75	14	132750251	298	40.75	207	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_F_actin_bind,HMMSmart_SM00808,PatternScan_PROTEIN_KINASE_ATP,superfamily_SH2 domain	p.P937L	ENST00000318560.5	37	c.2810	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	12.16	1.856110	0.32791	4.61E-4	0.0	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.14266	2.52;2.52	5.03	2.18	0.27775	.	0.325825	0.35013	N	0.003509	T	0.07052	0.0179	N	0.17082	0.46	0.80722	D	1	B;B	0.14805	0.003;0.011	B;B	0.09377	0.002;0.004	T	0.24977	-1.0145	10	0.46703	T	0.11	.	4.5462	0.12081	0.1543:0.5993:0.0:0.2464	.	918;955	P00519;Q59FK4	ABL1_HUMAN;.	L	733;937;918	ENSP00000361423:P937L;ENSP00000323315:P918L	ENSP00000323315:P918L	P	+	2	0	ABL1	132750251	0.417000	0.25432	0.988000	0.46212	0.885000	0.51271	1.033000	0.30191	0.534000	0.28695	0.561000	0.74099	CCG	-	NULL		0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	protein_coding	OTTHUMT00000054684.1	C	NM_007313		132750251	+1	no_errors	NM_007313.3	genbank	human	reviewed	54_36p	missense	SNP	0.837	T
UNC5B	219699	genome.wustl.edu	37	10	73055655	73055655	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr10:73055655C>T	ENST00000335350.6	+	14	2679	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R744C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	755	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R755C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCACAACCTGCGCCTCTCCCT	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											145.0	112.0	123.0					10																	73055655		2203	4300	6503	72725661	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2263C>T	10.37:g.73055655C>T	ENSP00000334329:p.Arg755Cys	955	0.00	0		1	50.00	1	72725661	363	41.64	259	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin	p.R755C	ENST00000335350.6	37	c.2263	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110795	0.77210	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48201	0.89;0.82	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.33189	0.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.934	T	0.47923	-0.9079	10	0.19147	T	0.46	-37.7918	17.8363	0.88699	0.0:1.0:0.0:0.0	.	744;755	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	755;744	ENSP00000334329:R755C;ENSP00000362288:R744C	ENSP00000334329:R755C	R	+	1	0	UNC5B	72725661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.569000	0.60865	2.437000	0.82529	0.591000	0.81541	CGC	-	NULL		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	C	NM_170744		72725661	+1	no_errors	NM_170744.3	genbank	human	validated	54_36p	missense	SNP	1.000	T
GDPD4	220032	genome.wustl.edu	37	11	76982212	76982212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr11:76982212C>T	ENST00000376217.2	-	6	613	c.363G>A	c.(361-363)tgG>tgA	p.W121*	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Nonsense_Mutation_p.W121*			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	121					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.W121*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AGGCCACAGGCCAGAAAAGGA	0.478																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	11											106.0	91.0	96.0					11																	76982212		2200	4292	6492	76659860	SO:0001587	stop_gained	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.363G>A	11.37:g.76982212C>T	ENSP00000365390:p.Trp121*	1967	0.05	1		0	0.00	0	76659860	1189	42.01	862	Q7Z5B0	Nonsense_Mutation	SNP	HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl	p.W121*	ENST00000376217.2	37	c.363		11	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477869	0.63849	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	.	.	.	4.55	3.61	0.41365	.	0.065479	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4629	9.5598	0.39362	0.2095:0.7905:0.0:0.0	.	.	.	.	X	121	.	ENSP00000320815:W121X	W	-	3	0	GDPD4	76659860	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	2.358000	0.44134	1.100000	0.41517	0.491000	0.48974	TGG	-	NULL		0.478	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	protein_coding	OTTHUMT00000382075.1	C	NM_182833		76659860	-1	no_errors	NM_182833.1	genbank	human	provisional	54_36p	nonsense	SNP	0.997	T
MAGEL2	54551	genome.wustl.edu	37	15	23890248	23890248	+	Missense_Mutation	SNP	C	C	T	rs368034669		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr15:23890248C>T	ENST00000532292.1	-	1	927	c.833G>A	c.(832-834)cGc>cAc	p.R278H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	161					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTTGCCGGAGCGGCGTGGCGG	0.657																																						dbGAP											0			15						C	HIS/ARG	0,4376		0,0,2188	39.0	46.0	44.0		2642	2.3	0.0	15		44	1,8581		0,1,4290	no	missense	MAGEL2	NM_019066.4	29	0,1,6478	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	881/1250	23890248	1,12957	2188	4291	6479	21441341	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.833G>A	15.37:g.23890248C>T	ENSP00000433433:p.Arg278His	276	0.00	0		NA	NA	NA	21441341	584	34.16	304		Missense_Mutation	SNP	HMMPfam_MAGE	p.R278H	ENST00000532292.1	37	c.833		15	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855836	0.32791	0.0	1.17E-4	ENSG00000254585	ENST00000532292	.	.	.	4.22	2.35	0.29111	.	.	.	.	.	T	0.22742	0.0549	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.20107	-1.0285	5	.	.	.	.	4.4156	0.11454	0.0:0.6117:0.1869:0.2014	.	.	.	.	T	310	.	.	A	-	1	0	MAGEL2	21441341	0.002000	0.14202	0.035000	0.18076	0.342000	0.28953	0.342000	0.19926	0.734000	0.32515	0.655000	0.94253	GCT	-	NULL		0.657	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	protein_coding	OTTHUMT00000395182.2	C	NM_019066		21441341	-1	no_errors	NM_019066.3	genbank	human	validated	54_36p	missense	SNP	0.002	T
MEGF11	84465	genome.wustl.edu	37	15	66190368	66190368	+	Silent	SNP	G	G	A	rs143310404		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr15:66190368G>A	ENST00000409699.2	-	23	3211	c.3039C>T	c.(3037-3039)taC>taT	p.Y1013Y	MEGF11_ENST00000395625.2_Silent_p.Y938Y|MEGF11_ENST00000422354.1_Silent_p.Y1013Y|MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Silent_p.Y938Y			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1013					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y938Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGGTAGGTCGTATGCATTCT	0.478																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15						G		2,4400	4.2+/-10.8	0,2,2199	138.0	123.0	128.0		3039	3.1	1.0	15	dbSNP_134	128	0,8598		0,0,4299	no	coding-synonymous	MEGF11	NM_032445.2		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		1013/1045	66190368	2,12998	2201	4299	6500	63977422	SO:0001819	synonymous_variant	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3039C>T	15.37:g.66190368G>A		836	0.00	0		NA	NA	NA	63977422	619	21.94	174	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196	p.Y938	ENST00000409699.2	37	c.2814	CCDS10213.2	15																																																																																			-	NULL		0.478	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	protein_coding	OTTHUMT00000329307.2	G	NM_032445		63977422	-1	no_errors	NM_032445.2	genbank	human	validated	54_36p	silent	SNP	1.000	A
