#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
ALMS1	7840	genome.wustl.edu	37	2	73653617	73653617	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr2:73653617C>A	ENST00000264448.6	+	6	1385	c.1274C>A	c.(1273-1275)aCt>aAt	p.T425N	ALMS1_ENST00000377715.1_Missense_Mutation_p.T425N|ALMS1_ENST00000409009.1_Missense_Mutation_p.T383N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	425					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACGTCATTACTCTGGATGGC	0.403																																						dbGAP											0													235.0	226.0	229.0					2																	73653617		1943	4131	6074	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1274C>A	2.37:g.73653617C>A	ENSP00000264448:p.Thr425Asn		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.T425N	ENST00000264448.6	37	c.1274	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	5.089	0.201976	0.09652	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.22743	2.82;2.81;1.94	4.67	1.86	0.25419	.	0.644104	0.13768	N	0.364119	T	0.20780	0.0500	L	0.36672	1.1	0.09310	N	1	D;D	0.54047	0.964;0.964	P;P	0.50109	0.631;0.631	T	0.08953	-1.0697	10	0.66056	D	0.02	.	5.1598	0.15054	0.0:0.6462:0.1689:0.1849	.	383;425	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	N	383;425;425	ENSP00000386627:T383N;ENSP00000264448:T425N;ENSP00000366944:T425N	ENSP00000264448:T425N	T	+	2	0	ALMS1	73507125	0.008000	0.16893	0.001000	0.08648	0.014000	0.08584	1.245000	0.32790	0.430000	0.26230	0.655000	0.94253	ACT	ALMS1	-	NULL	ENSG00000116127		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	105	0.00	0	C	NM_015120		73653617	73653617	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	29	47.27	26	SNP	0.002	A
APOBR	55911	genome.wustl.edu	37	16	28507445	28507445	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr16:28507445G>C	ENST00000431282.1	+	3	1066	c.1056G>C	c.(1054-1056)gaG>gaC	p.E352D	APOBR_ENST00000564831.1_Missense_Mutation_p.E361D|APOBR_ENST00000328423.5_Missense_Mutation_p.E352D|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	352	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGGAGGGGAGGAGGCCGGGA	0.682																																						dbGAP											0													12.0	15.0	14.0					16																	28507445		1938	4080	6018	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1056G>C	16.37:g.28507445G>C	ENSP00000416094:p.Glu352Asp		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E361D	ENST00000431282.1	37	c.1083		16	.	.	.	.	.	.	.	.	.	.	G	7.381	0.628786	0.14257	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59502	0.26;0.26	3.42	-2.0	0.07433	.	.	.	.	.	T	0.37183	0.0994	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.18147	-1.0346	8	0.33940	T	0.23	.	4.5869	0.12287	0.5053:0.1711:0.3237:0.0	.	352	Q9NS13	.	D	352	ENSP00000327669:E352D;ENSP00000416094:E352D	ENSP00000327669:E352D	E	+	3	2	APOBR	28414946	0.040000	0.19996	0.000000	0.03702	0.006000	0.05464	0.236000	0.17967	-0.482000	0.06782	-1.291000	0.01355	GAG	APOBR	-	NULL	ENSG00000184730		0.682	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		13	0.00	0	G	NM_182804		28507445	28507445	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.310	C
CBWD1	55871	genome.wustl.edu	37	9	163985	163985	+	Silent	SNP	A	A	G			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr9:163985A>G	ENST00000356521.4	-	5	571	c.483T>C	c.(481-483)taT>taC	p.Y161Y	CBWD1_ENST00000382447.4_Silent_p.Y161Y|CBWD1_ENST00000314367.10_Silent_p.Y125Y|CBWD1_ENST00000377447.3_Silent_p.Y161Y|CBWD1_ENST00000377400.4_Silent_p.Y161Y|CBWD1_ENST00000431099.2_Silent_p.Y125Y	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	161							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TACCATCAAGATAAATATCAC	0.323																																						dbGAP											0													52.0	80.0	70.0					9																	163985		1501	2702	4203	-	-	-	SO:0001819	synonymous_variant	0			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.483T>C	9.37:g.163985A>G			A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Silent	SNP	pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.Y161	ENST00000356521.4	37	c.483	CCDS6438.1	9																																																																																			CBWD1	-	pfam_Cbl_biosynth_CobW-like	ENSG00000172785		0.323	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	117	0.85	1	A	NM_018491		163985	163985	-1	no_errors	ENST00000356521	ensembl	human	known	69_37n	silent	62	11.43	8	SNP	0.999	G
CBX1	10951	genome.wustl.edu	37	17	46148872	46148872	+	Silent	SNP	T	T	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr17:46148872T>A	ENST00000393408.3	-	5	963	c.483A>T	c.(481-483)atA>atT	p.I161I	CBX1_ENST00000225603.4_Silent_p.I161I	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	161	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CATAGAAGGATATGACAACCT	0.488																																					NSCLC(136;694 2497 38792 39034)	dbGAP											0													111.0	86.0	95.0					17																	46148872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.483A>T	17.37:g.46148872T>A			P23197	Silent	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.I161	ENST00000393408.3	37	c.483	CCDS11525.1	17																																																																																			CBX1	-	pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000108468		0.488	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	74	0.00	0	T	NM_006807		46148872	46148872	-1	no_errors	ENST00000225603	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	1.000	A
CD3EAP	10849	genome.wustl.edu	37	19	45912507	45912507	+	Frame_Shift_Del	DEL	G	G	-	rs200430601		TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr19:45912507delG	ENST00000309424.3	+	3	1769	c.1281delG	c.(1279-1281)aagfs	p.K428fs	ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Frame_Shift_Del_p.K430fs|PPP1R13L_ENST00000418234.2_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	428	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaagaagaaagagaGAG	0.582																																						dbGAP											0													41.0	49.0	46.0					19																	45912507		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1281delG	19.37:g.45912507delG	ENSP00000310966:p.Lys428fs		Q32N11|Q7Z5U2|Q9UPF6	Frame_Shift_Del	DEL	pfam_DNA-dir_RNA_pol1_su_RPA34	p.E431fs	ENST00000309424.3	37	c.1287	CCDS12661.1	19																																																																																			CD3EAP	-	NULL	ENSG00000117877		0.582	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1	60	0.00	0	G	NM_012099		45912507	45912507	+1	no_errors	ENST00000589804	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.883	-
CELSR1	9620	genome.wustl.edu	37	22	46932208	46932208	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr22:46932208A>G	ENST00000262738.3	-	1	859	c.860T>C	c.(859-861)cTg>cCg	p.L287P	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.L287P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	287	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCGTCGAACAGCCCCTCCAT	0.642																																						dbGAP											0													65.0	63.0	64.0					22																	46932208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.860T>C	22.37:g.46932208A>G	ENSP00000262738:p.Leu287Pro		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L287P	ENST00000262738.3	37	c.860	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	A	14.61	2.586375	0.46110	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.50548	0.74;0.74	3.97	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	U	0.000124	T	0.65913	0.2737	M	0.74389	2.26	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.67589	-0.5632	10	0.45353	T	0.12	.	12.5233	0.56072	1.0:0.0:0.0:0.0	.	287	Q9NYQ6	CELR1_HUMAN	P	287	ENSP00000262738:L287P;ENSP00000379293:L287P	ENSP00000262738:L287P	L	-	2	0	CELSR1	45310872	0.998000	0.40836	0.998000	0.56505	0.032000	0.12392	6.740000	0.74832	1.435000	0.47434	0.374000	0.22700	CTG	CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000075275		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	32	0.00	0	A	NM_014246		46932208	46932208	-1	no_errors	ENST00000262738	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.999	G
CEP57L1	285753	genome.wustl.edu	37	6	109483990	109483990	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr6:109483990G>T	ENST00000517392.1	+	11	1626	c.1200G>T	c.(1198-1200)atG>atT	p.M400I	CEP57L1_ENST00000523787.1_Missense_Mutation_p.M403I|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000368970.2_Missense_Mutation_p.M417I|CEP57L1_ENST00000407272.1_Missense_Mutation_p.M400I|CEP57L1_ENST00000521522.1_Missense_Mutation_p.M347I|CEP57L1_ENST00000359793.3_Missense_Mutation_p.M400I|CEP57L1_ENST00000336977.4_Missense_Mutation_p.M300I|CEP57L1_ENST00000520883.1_Missense_Mutation_p.M300I	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	400					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						ACTCAAAGATGAGTGAAGCTT	0.318																																						dbGAP											0													57.0	56.0	56.0					6																	109483990		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1200G>T	6.37:g.109483990G>T	ENSP00000427844:p.Met400Ile		G5E992	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.M400I	ENST00000517392.1	37	c.1200	CCDS5071.1	6	.	.	.	.	.	.	.	.	.	.	G	4.020	0.001061	0.07819	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;T	0.41400	1.01;1.01;1.01;1.02;1.01;1.01;1.0;1.01	5.32	4.28	0.50868	.	1.002840	0.08024	N	0.992439	T	0.12305	0.0299	L	0.35414	1.06	0.22880	N	0.998613	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	10	0.12766	T	0.61	-0.3462	8.5579	0.33492	0.1395:0.0:0.8605:0.0	.	400	Q8IYX8	CE57L_HUMAN	I	400;400;300;347;417;300;403;400	ENSP00000427844:M400I;ENSP00000383936:M400I;ENSP00000337392:M300I;ENSP00000428344:M347I;ENSP00000357966:M417I;ENSP00000430011:M300I;ENSP00000430529:M403I;ENSP00000352841:M400I	ENSP00000337392:M300I	M	+	3	0	CEP57L1	109590683	0.028000	0.19301	0.470000	0.27216	0.643000	0.38383	0.615000	0.24329	1.015000	0.39444	0.591000	0.81541	ATG	CEP57L1	-	NULL	ENSG00000183137		0.318	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	CEP57L1	HGNC	protein_coding	OTTHUMT00000041734.4	55	0.00	0	G	NM_173830		109483990	109483990	+1	no_errors	ENST00000359793	ensembl	human	known	69_37n	missense	5	66.67	10	SNP	0.912	T
COL6A5	256076	genome.wustl.edu	37	3	130095411	130095411	+	Silent	SNP	G	G	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr3:130095411G>A	ENST00000432398.2	+	3	893	c.399G>A	c.(397-399)caG>caA	p.Q133Q	COL6A5_ENST00000265379.6_Silent_p.Q133Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	133	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACAGGAAACAGTTTCCCCCAA	0.512																																						dbGAP											0													57.0	60.0	59.0					3																	130095411		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.399G>A	3.37:g.130095411G>A			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q133	ENST00000432398.2	37	c.399		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.512	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		64	0.00	0	G	NM_153264		130095411	130095411	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.293	A
DCTN1	1639	genome.wustl.edu	37	2	74595859	74595859	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr2:74595859C>T	ENST00000361874.3	-	16	2167	c.1850G>A	c.(1849-1851)tGc>tAc	p.C617Y	DCTN1_ENST00000407639.2_Missense_Mutation_p.C483Y|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409567.3_Missense_Mutation_p.C597Y|DCTN1_ENST00000409438.1_Missense_Mutation_p.C483Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.C610Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.C580Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.C600Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	617					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCATACCTTGCAAATGAGACG	0.517																																						dbGAP											0													137.0	109.0	118.0					2																	74595859		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1850G>A	2.37:g.74595859C>T	ENSP00000354791:p.Cys617Tyr		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.C617Y	ENST00000361874.3	37	c.1850	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762867	0.89932	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.65	5.65	0.86999	.	0.000000	0.47455	D	0.000236	D	0.90164	0.6926	M	0.65975	2.015	0.80722	D	1	D;D;D;B;P;D	0.69078	0.996;0.97;0.997;0.144;0.806;0.997	P;P;D;B;P;D	0.81914	0.892;0.829;0.995;0.237;0.62;0.991	D	0.88264	0.2925	10	0.39692	T	0.17	-6.3442	18.6545	0.91445	0.0:1.0:0.0:0.0	.	597;580;617;610;483;483	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Y	617;610;600;483;483;580;600;597	ENSP00000354791:C617Y;ENSP00000377571:C610Y;ENSP00000384844:C483Y;ENSP00000387270:C483Y;ENSP00000386406:C580Y;ENSP00000387327:C600Y;ENSP00000386843:C597Y	ENSP00000354791:C617Y	C	-	2	0	DCTN1	74449367	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.654000	0.67974	2.941000	0.99782	0.655000	0.94253	TGC	DCTN1	-	pfam_Dynactin	ENSG00000204843		0.517	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	66	0.00	0	C	NM_004082		74595859	74595859	-1	no_errors	ENST00000361874	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	1.000	T
DHPS	1725	genome.wustl.edu	37	19	12788175	12788175	+	Silent	SNP	G	G	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr19:12788175G>A	ENST00000210060.7	-	6	849	c.714C>T	c.(712-714)gaC>gaT	p.D238D	DHPS_ENST00000594424.1_Silent_p.D196D|DHPS_ENST00000351660.5_Silent_p.D238D|DHPS_ENST00000599481.1_5'Flank	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	238					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CCAGCGAGCCGTCTGTAAGTG	0.577																																						dbGAP											0													79.0	67.0	71.0					19																	12788175		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.714C>T	19.37:g.12788175G>A			A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Silent	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.D238	ENST00000210060.7	37	c.714	CCDS12276.1	19																																																																																			DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	ENSG00000095059		0.577	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	55	0.00	0	G	NM_001930		12788175	12788175	-1	no_errors	ENST00000210060	ensembl	human	known	69_37n	silent	17	48.48	16	SNP	0.463	A
DHX40	79665	genome.wustl.edu	37	17	57650594	57650594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr17:57650594delA	ENST00000251241.4	+	4	691	c.544delA	c.(544-546)acafs	p.T182fs	DHX40_ENST00000425628.3_Frame_Shift_Del_p.T105fs|DHX40_ENST00000451169.2_Frame_Shift_Del_p.T83fs	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	182	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AACTCTAACTACAGTGAGtat	0.303																																						dbGAP											0													60.0	65.0	63.0					17																	57650594		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.544delA	17.37:g.57650594delA	ENSP00000251241:p.Thr182fs		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Frame_Shift_Del	DEL	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T182fs	ENST00000251241.4	37	c.544	CCDS11617.1	17																																																																																			DHX40	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000108406		0.303	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX40	HGNC	protein_coding	OTTHUMT00000446095.1	42	0.00	0	A	NM_024612		57650594	57650594	+1	no_errors	ENST00000251241	ensembl	human	known	69_37n	frame_shift_del	23	34.29	12	DEL	1.000	-
ECEL1	9427	genome.wustl.edu	37	2	233350770	233350771	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr2:233350770_233350771insA	ENST00000304546.1	-	2	803_804	c.593_594insT	c.(592-594)ccgfs	p.P198fs	ECEL1_ENST00000409941.1_Frame_Shift_Ins_p.P198fs	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	198					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCATGGGTCGCGGGCCCAGTCG	0.757																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.593_594insT	2.37:g.233350770_233350771insA	ENSP00000302051:p.Pro198fs		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Frame_Shift_Ins	INS	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R199fs	ENST00000304546.1	37	c.594_593	CCDS2493.1	2																																																																																			ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.757	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	13	0.00	0	-	NM_004826		233350770	233350771	-1	no_errors	ENST00000304546	ensembl	human	known	69_37n	frame_shift_ins	2	50.00	2	INS	0.458:0.998	A
FAM98C	147965	genome.wustl.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						dbGAP											0										414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				-	-	-	SO:0001651	inframe_deletion	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del		A6NMW3|Q66K45	In_Frame_Del	DEL	pfam_Uncharacterised_FAM98	p.K347in_frame_del	ENST00000252530.5	37	c.1030_1032	CCDS42562.1	19																																																																																			FAM98C	-	NULL	ENSG00000130244		0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	33	0.00	0	AAG	NM_174905		38899502	38899504	+1	no_errors	ENST00000252530	ensembl	human	known	69_37n	in_frame_del	9	18.18	2	DEL	0.830:0.873:0.987	-
FAT3	120114	genome.wustl.edu	37	11	92507304	92507304	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr11:92507304G>C	ENST00000298047.6	+	6	4310	c.4293G>C	c.(4291-4293)atG>atC	p.M1431I	FAT3_ENST00000525166.1_Missense_Mutation_p.M1281I|FAT3_ENST00000409404.2_Missense_Mutation_p.M1431I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1431	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTATAATATGAGTGTGGAAG	0.458										TCGA Ovarian(4;0.039)																												dbGAP											0													86.0	85.0	85.0					11																	92507304		1914	4113	6027	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4293G>C	11.37:g.92507304G>C	ENSP00000298047:p.Met1431Ile		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.M1431I	ENST00000298047.6	37	c.4293		11	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353839	0.61293	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.58060	0.36;0.36;0.36	5.49	5.49	0.81192	.	.	.	.	.	T	0.40473	0.1118	N	0.05012	-0.13	0.80722	D	1	P	0.44690	0.841	B	0.44108	0.441	T	0.50039	-0.8874	9	0.54805	T	0.06	.	19.3507	0.94384	0.0:0.0:1.0:0.0	.	1431	Q8TDW7-3	.	I	1431;1431;1281	ENSP00000298047:M1431I;ENSP00000387040:M1431I;ENSP00000432586:M1281I	ENSP00000298047:M1431I	M	+	3	0	FAT3	92146952	1.000000	0.71417	0.959000	0.39883	0.943000	0.58893	6.078000	0.71282	2.568000	0.86640	0.650000	0.86243	ATG	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.458	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		72	0.00	0	G	NM_001008781		92507304	92507304	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	C
GOLGA3	2802	genome.wustl.edu	37	12	133351864	133351864	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr12:133351864G>C	ENST00000450791.2	-	21	4189	c.4006C>G	c.(4006-4008)Cag>Gag	p.Q1336E	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q1336E|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q1336E			Q08378	GOGA3_HUMAN	golgin A3	1336	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGTCTTCCTGGGCCATCTCC	0.443																																						dbGAP											0													94.0	85.0	88.0					12																	133351864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4006C>G	12.37:g.133351864G>C	ENSP00000410378:p.Gln1336Glu		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.Q1336E	ENST00000450791.2	37	c.4006	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260790	0.39995	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.71222	-0.55;-0.55;1.78	6.07	5.15	0.70609	.	0.165252	0.56097	D	0.000036	T	0.57989	0.2091	L	0.34521	1.04	0.80722	D	1	B;P	0.35807	0.167;0.522	B;B	0.35931	0.085;0.214	T	0.54200	-0.8329	10	0.08599	T	0.76	.	15.5362	0.76004	0.0:0.0:0.7569:0.2431	.	1336;1336	Q08378-2;Q08378	.;GOGA3_HUMAN	E	1336	ENSP00000204726:Q1336E;ENSP00000410378:Q1336E;ENSP00000409303:Q1336E	ENSP00000204726:Q1336E	Q	-	1	0	GOLGA3	131861937	1.000000	0.71417	0.905000	0.35620	0.411000	0.31082	5.183000	0.65065	2.884000	0.98904	0.655000	0.94253	CAG	GOLGA3	-	NULL	ENSG00000090615		0.443	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	89	0.00	0	G	NM_005895		133351864	133351864	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.984	C
HTR2C	3358	genome.wustl.edu	37	X	114141530	114141530	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chrX:114141530C>T	ENST00000276198.1	+	6	1657	c.929C>T	c.(928-930)tCg>tTg	p.S310L	HTR2C_ENST00000371951.1_Missense_Mutation_p.S310L|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	310					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGAAAAGCTTCGAAAGTCCTT	0.438																																						dbGAP											0													178.0	157.0	164.0					X																	114141530		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.929C>T	X.37:g.114141530C>T	ENSP00000276198:p.Ser310Leu		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.S310L	ENST00000276198.1	37	c.929	CCDS14564.1	X	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232989	0.58777	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.69806	-0.43;-0.43	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.065865	0.64402	D	0.000007	T	0.54062	0.1835	N	0.20483	0.58	0.80722	D	1	B	0.22480	0.07	B	0.30316	0.114	T	0.50004	-0.8878	10	0.24483	T	0.36	.	15.2701	0.73693	0.0:1.0:0.0:0.0	.	310	P28335	5HT2C_HUMAN	L	310	ENSP00000276198:S310L;ENSP00000361019:S310L	ENSP00000276198:S310L	S	+	2	0	HTR2C	114047786	1.000000	0.71417	0.378000	0.26068	0.863000	0.49368	5.991000	0.70602	2.285000	0.76669	0.468000	0.43344	TCG	HTR2C	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000147246		0.438	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	150	0.66	1	C	NM_000868		114141530	114141530	+1	no_errors	ENST00000276198	ensembl	human	known	69_37n	missense	13	69.77	30	SNP	0.994	T
IGKV1-39	28930	genome.wustl.edu	37	2	89619806	89619806	+	RNA	SNP	G	G	A	rs114472229	byFrequency	TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr2:89619806G>A	ENST00000498574.1	-	0	98									immunoglobulin kappa variable 1-39 (gene/pseudogene)																		TCCTTACCTCGGAGCCAGAGT	0.522																																						dbGAP											0													6.0	7.0	7.0					2																	89619806		1093	2290	3383	-	-	-			0			X59315		2p11.2	2012-02-08	2008-09-12		ENSG00000242371	ENSG00000242371		"""Immunoglobulins / IGK locus"""	5740	other	immunoglobulin gene			"""immunoglobulin kappa variable 1-39"""				Standard	NG_000834		Approved				OTTHUMG00000151678		2.37:g.89619806G>A				Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R18*	ENST00000498574.1	37	c.52		2																																																																																			IGKV1-39	-	NULL	ENSG00000242371		0.522	IGKV1-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1-39	HGNC	IG_V_gene	OTTHUMT00000323476.1	19	0.00	0	G	NG_000834		89619806	89619806	-1	no_stop_codon	ENST00000498574	ensembl	human	known	69_37n	nonsense	16	23.81	5	SNP	0.010	A
MEPE	56955	genome.wustl.edu	37	4	88767390	88767390	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr4:88767390C>T	ENST00000424957.3	+	4	1443	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L	MEPE_ENST00000560249.1_Missense_Mutation_p.P344L|MEPE_ENST00000497649.2_Missense_Mutation_p.P433L|MEPE_ENST00000395102.4_Missense_Mutation_p.P488L|MEPE_ENST00000540395.1_Missense_Mutation_p.P344L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.P457L	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	457					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TTTAATGGCCCCAGTCATGAG	0.403																																						dbGAP											0													62.0	61.0	61.0					4																	88767390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1370C>T	4.37:g.88767390C>T	ENSP00000416984:p.Pro457Leu		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.P457L	ENST00000424957.3	37	c.1370	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697995	0.30142	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.42900	0.96;0.97;0.96;0.98;0.96	4.89	-0.142	0.13448	.	0.350516	0.20776	N	0.085881	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.29508	0.246	B	0.28305	0.088	T	0.07966	-1.0745	10	0.28530	T	0.3	-1.2609	1.3924	0.02253	0.1616:0.3273:0.3159:0.1952	.	457	Q9NQ76	MEPE_HUMAN	L	457;488;433;344;457	ENSP00000416984:P457L;ENSP00000378534:P488L;ENSP00000422747:P433L;ENSP00000443491:P344L;ENSP00000354341:P457L	ENSP00000354341:P457L	P	+	2	0	MEPE	88986414	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	-0.065000	0.11617	0.246000	0.21394	0.563000	0.77884	CCC	MEPE	-	NULL	ENSG00000152595		0.403	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	51	0.00	0	C			88767390	88767390	+1	no_errors	ENST00000361056	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.000	T
MSL1	339287	genome.wustl.edu	37	17	38282588	38282588	+	Silent	SNP	G	G	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr17:38282588G>A	ENST00000398532.4	+	2	1236	c.921G>A	c.(919-921)gaG>gaA	p.E307E	MSL1_ENST00000579565.1_Silent_p.E44E|MSL1_ENST00000578648.1_Silent_p.E307E|MSL1_ENST00000577454.1_Silent_p.E307E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	307					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GCCAGCCGGAGCTTTCCGAGA	0.478																																						dbGAP											0													78.0	80.0	79.0					17																	38282588		1936	4141	6077	-	-	-	SO:0001819	synonymous_variant	0				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.921G>A	17.37:g.38282588G>A			Q0VF46|Q69Z03	Silent	SNP	NULL	p.E307	ENST00000398532.4	37	c.921		17																																																																																			MSL1	-	NULL	ENSG00000188895		0.478	MSL1-003	KNOWN	basic	protein_coding	MSL1	HGNC	protein_coding	OTTHUMT00000447409.2	57	0.00	0	G	NM_001012241		38282588	38282588	+1	no_errors	ENST00000398532	ensembl	human	known	69_37n	silent	23	45.24	19	SNP	1.000	A
NOTCH2	4853	genome.wustl.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P6fs	ENST00000256646.2	37	c.18_17	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch	ENSG00000134250		0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	8	0.00	0	GG	NM_024408		120612003	120612004	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	frame_shift_del	3	50.00	3	DEL	0.101:0.700	-
PCDHB11	56125	genome.wustl.edu	37	5	140580709	140580709	+	Silent	SNP	C	C	T			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr5:140580709C>T	ENST00000354757.3	+	1	1362	c.1362C>T	c.(1360-1362)acC>acT	p.T454T	PCDHB11_ENST00000536699.1_Silent_p.T89T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	454					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCCAAACCTCCTACACCC	0.582																																						dbGAP											0													138.0	126.0	130.0					5																	140580709		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1362C>T	5.37:g.140580709C>T			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T454	ENST00000354757.3	37	c.1362	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000197479		0.582	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	63	0.00	0	C	NM_018931		140580709	140580709	+1	no_errors	ENST00000354757	ensembl	human	known	69_37n	silent	20	50.00	20	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178948044	178948044	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr3:178948044A>G	ENST00000263967.3	+	20	2973	c.2816A>G	c.(2815-2817)gAt>gGt	p.D939G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	939	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.D939G(2)		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)	CACTTTTTGGATCACAAGAAG	0.294		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"""	2	Substitution - Missense(2)	endometrium(2)											64.0	63.0	63.0					3																	178948044		1796	4071	5867	-	-	-	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.2816A>G	3.37:g.178948044A>G	ENSP00000263967:p.Asp939Gly		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.D939G	ENST00000263967.3	37	c.2816	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	7.194	0.592088	0.13812	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	5.29	5.29	0.74685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	N	0.00633	-1.31	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.58923	-0.7550	10	0.02654	T	1	-19.7113	15.2115	0.73227	1.0:0.0:0.0:0.0	.	939	P42336	PK3CA_HUMAN	G	939	ENSP00000263967:D939G	ENSP00000263967:D939G	D	+	2	0	PIK3CA	180430738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	1.990000	0.58119	0.477000	0.44152	GAT	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.294	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	43	0.00	0	A			178948044	178948044	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	1.000	G
PKHD1L1	93035	genome.wustl.edu	37	8	110412471	110412471	+	Missense_Mutation	SNP	T	T	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr8:110412471T>A	ENST00000378402.5	+	13	1283	c.1179T>A	c.(1177-1179)agT>agA	p.S393R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	393					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACGCTTTAGTGGATTTTTGG	0.408										HNSCC(38;0.096)																												dbGAP											0													335.0	325.0	328.0					8																	110412471		1887	4108	5995	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1179T>A	8.37:g.110412471T>A	ENSP00000367655:p.Ser393Arg		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.S393R	ENST00000378402.5	37	c.1179	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015730	0.35606	.	.	ENSG00000205038	ENST00000378402	T	0.22743	1.94	5.32	5.32	0.75619	PA14 (1);	0.119017	0.56097	D	0.000031	T	0.34890	0.0913	L	0.46157	1.445	0.33550	D	0.596019	D	0.57571	0.98	P	0.61940	0.896	T	0.44251	-0.9340	10	0.32370	T	0.25	.	13.2271	0.59921	0.0:0.0:0.0:1.0	.	393	Q86WI1	PKHL1_HUMAN	R	393	ENSP00000367655:S393R	ENSP00000367655:S393R	S	+	3	2	PKHD1L1	110481647	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.523000	0.45580	2.007000	0.58848	0.460000	0.39030	AGT	PKHD1L1	-	pfam_PA14,smart_PA14	ENSG00000205038		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	207	0.00	0	T	NM_177531		110412471	110412471	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	36	75.00	108	SNP	1.000	A
PLCZ1	89869	genome.wustl.edu	37	12	18837138	18837138	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr12:18837138A>G	ENST00000538330.1	-	10	1394	c.1013T>C	c.(1012-1014)gTt>gCt	p.V338A	PLCZ1_ENST00000435379.1_Missense_Mutation_p.V361A|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.V363A|PLCZ1_ENST00000534932.1_Missense_Mutation_p.V37A|PLCZ1_ENST00000266505.7_Missense_Mutation_p.V556A|PLCZ1_ENST00000447925.2_Missense_Mutation_p.V554A					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGACCTTCAACAACAAAACG	0.323																																						dbGAP											0													105.0	103.0	104.0					12																	18837138		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1013T>C	12.37:g.18837138A>G	ENSP00000445880:p.Val338Ala			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V556A	ENST00000538330.1	37	c.1667		12	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426538	0.43020	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.15	1.53	0.23141	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.209202	0.40469	N	0.001085	T	0.31702	0.0805	M	0.62266	1.93	0.80722	D	1	B;B	0.30482	0.145;0.281	B;B	0.38020	0.094;0.263	T	0.10382	-1.0632	10	0.52906	T	0.07	.	7.3986	0.26950	0.7088:0.0:0.2912:0.0	.	556;338	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	A	37;338;556;554;361;363	ENSP00000438826:V37A;ENSP00000445880:V338A;ENSP00000266505:V556A;ENSP00000402358:V554A;ENSP00000400504:V361A;ENSP00000445026:V363A	ENSP00000266505:V556A	V	-	2	0	PLCZ1	18728405	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.544000	0.53640	0.440000	0.26502	0.533000	0.62120	GTT	PLCZ1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139151		0.323	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	107	0.00	0	A	NM_033123		18837138	18837138	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	missense	28	46.15	24	SNP	0.998	G
PPFIBP1	8496	genome.wustl.edu	37	12	27832871	27832871	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr12:27832871G>C	ENST00000318304.8	+	20	2073	c.1790G>C	c.(1789-1791)aGg>aCg	p.R597T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R566T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R591T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.R444T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	597					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTTAGACTTAGGAGAAGTCAA	0.453																																						dbGAP											0													74.0	70.0	71.0					12																	27832871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1790G>C	12.37:g.27832871G>C	ENSP00000314724:p.Arg597Thr		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R597T	ENST00000318304.8	37	c.1790	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816840	0.50633	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.91	5.03	0.67393	.	0.000000	0.37348	U	0.002122	T	0.79885	0.4523	L	0.39898	1.24	0.34002	D	0.650361	D;P;P;P;B	0.55172	0.97;0.915;0.749;0.731;0.397	D;P;B;B;B	0.63283	0.913;0.72;0.334;0.397;0.273	D	0.83509	0.0079	10	0.38643	T	0.18	-27.6821	9.3582	0.38179	0.2175:0.0:0.7825:0.0	.	444;428;597;591;566	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	T	428;444;597;566;591	ENSP00000444304:R428T;ENSP00000445425:R444T;ENSP00000314724:R597T;ENSP00000443442:R566T;ENSP00000228425:R591T	ENSP00000228425:R591T	R	+	2	0	PPFIBP1	27724138	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	2.300000	0.43620	1.512000	0.48834	0.655000	0.94253	AGG	PPFIBP1	-	NULL	ENSG00000110841		0.453	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	52	0.00	0	G	NM_003622		27832871	27832871	+1	no_errors	ENST00000318304	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	0.997	C
RAP2C	57826	genome.wustl.edu	37	X	131348321	131348321	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chrX:131348321T>C	ENST00000342983.2	-	3	1173	c.427A>G	c.(427-429)Atg>Gtg	p.M143V	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.M143V|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	143					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GATGTCTCCATGAAAGGACAG	0.453																																						dbGAP											0													148.0	122.0	131.0					X																	131348321		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.427A>G	X.37:g.131348321T>C	ENSP00000340274:p.Met143Val		B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M143V	ENST00000342983.2	37	c.427	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731083	0.48939	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.77877	-1.13;-1.13	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.041317	0.85682	D	0.000000	T	0.60090	0.2242	N	0.05012	-0.13	0.48135	D	0.999593	B	0.11235	0.004	B	0.09377	0.004	T	0.56318	-0.7999	10	0.34782	T	0.22	.	14.8537	0.70319	0.0:0.0:0.0:1.0	.	143	Q9Y3L5	RAP2C_HUMAN	V	143	ENSP00000340274:M143V;ENSP00000359911:M143V	ENSP00000340274:M143V	M	-	1	0	RAP2C	131176002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.658000	0.83755	1.890000	0.54733	0.451000	0.29950	ATG	RAP2C	-	pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123728		0.453	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	85	0.00	0	T	NM_021183		131348321	131348321	-1	no_errors	ENST00000342983	ensembl	human	known	69_37n	missense	11	59.26	16	SNP	1.000	C
TNFRSF19	55504	genome.wustl.edu	37	13	24242970	24242970	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr13:24242970C>A	ENST00000382258.4	+	9	1183	c.979C>A	c.(979-981)Cct>Act	p.P327T	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P327T|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P195T|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P327T	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	327					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGACTCTTATCCTGAACTCAC	0.473																																						dbGAP											0													183.0	172.0	175.0					13																	24242970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.979C>A	13.37:g.24242970C>A	ENSP00000371693:p.Pro327Thr		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.P327T	ENST00000382258.4	37	c.979	CCDS9302.1	13	.	.	.	.	.	.	.	.	.	.	C	11.44	1.637990	0.29157	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.78595	-1.17;1.45;-1.19;-1.17	6.07	4.02	0.46733	.	0.415098	0.25453	N	0.030575	T	0.77935	0.4205	L	0.56769	1.78	0.09310	N	1	P;P;P	0.52842	0.956;0.775;0.775	P;B;B	0.51016	0.656;0.306;0.306	T	0.70612	-0.4824	10	0.72032	D	0.01	-14.706	7.8845	0.29642	0.0:0.6658:0.1377:0.1965	.	195;327;327	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	T	327;195;327;327	ENSP00000248484:P327T;ENSP00000385408:P195T;ENSP00000371693:P327T;ENSP00000371698:P327T	ENSP00000248484:P327T	P	+	1	0	TNFRSF19	23140970	0.526000	0.26298	0.829000	0.32907	0.466000	0.32739	0.780000	0.26760	1.553000	0.49476	0.655000	0.94253	CCT	TNFRSF19	-	NULL	ENSG00000127863		0.473	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	61	0.00	0	C	NM_018647		24242970	24242970	+1	no_errors	ENST00000382258	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.057	A
TTN	7273	genome.wustl.edu	37	2	179550299	179550299	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1P0-01A-11D-A142-09	TCGA-EW-A1P0-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6475f4dd-782c-411a-b7ce-9c9ebd0753b8	b71deea6-58d2-42b0-89f6-8a195ffe6213	g.chr2:179550299C>A	ENST00000591111.1	-	126	31611	c.31387G>T	c.(31387-31389)Gtg>Ttg	p.V10463L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V9536L|TTN_ENST00000589042.1_Missense_Mutation_p.V10780L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTTCCACAACATATTCC	0.343																																						dbGAP											0													117.0	110.0	112.0					2																	179550299		1891	4111	6002	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31387G>T	2.37:g.179550299C>A	ENSP00000465570:p.Val10463Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V9536L	ENST00000591111.1	37	c.28606		2	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457499	0.43634	.	.	ENSG00000155657	ENST00000342992	T	0.63255	-0.03	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47893	0.1470	N	0.22421	0.69	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.48980	-0.8986	9	0.87932	D	0	.	10.1178	0.42601	0.0:0.7889:0.1382:0.0729	.	10463	Q8WZ42	TITIN_HUMAN	L	9536	ENSP00000343764:V9536L	ENSP00000343764:V9536L	V	-	1	0	TTN	179258544	0.820000	0.29190	1.000000	0.80357	0.935000	0.57460	0.440000	0.21592	2.824000	0.97209	0.655000	0.94253	GTG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	124	0.00	0	C	NM_133378		179550299	179550299	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	34	41.38	24	SNP	1.000	A
