#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
ANKRD34C	390616	genome.wustl.edu	37	15	79586581	79586581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr15:79586581delA	ENST00000558647.2	+	1	955	c.955delA	c.(955-957)aagfs	p.K319fs	ANKRD34C_ENST00000421388.2_Frame_Shift_Del_p.K319fs			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	319										endometrium(3)|kidney(1)|skin(1)	5						GCAGGTTCTGAAGATTCCAGT	0.537																																						dbGAP											0													19.0	19.0	19.0					15																	79586581		685	1584	2269	-	-	-	SO:0001589	frameshift_variant	0				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.955delA	15.37:g.79586581delA	ENSP00000454921:p.Lys319fs		H3BNM1	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K319fs	ENST00000558647.2	37	c.955	CCDS53965.1	15																																																																																			ANKRD34C	-	NULL	ENSG00000235711		0.537	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2	38	0.00	0	A	NM_001146341		79586581	79586581	+1	no_errors	ENST00000421388	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.811	-
ANKRD52	283373	genome.wustl.edu	37	12	56651611	56651611	+	Splice_Site	DEL	C	C	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr12:56651611delC	ENST00000267116.7	-	2	233		c.e2+1			NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52											endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCCAACTCACCAGCACATTG	0.622																																						dbGAP											0													46.0	51.0	50.0					12																	56651611		1991	4168	6159	-	-	-	SO:0001630	splice_region_variant	0			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.111+1G>-	12.37:g.56651611delC			A6NE79|B1Q2K2	Splice_Site	DEL	-	e2+1	ENST00000267116.7	37	c.111+1	CCDS44920.1	12																																																																																			ANKRD52	-	-	ENSG00000139645		0.622	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1	87	0.00	0	C	NM_173595	Intron	56651611	56651611	-1	no_errors	ENST00000267116	ensembl	human	known	69_37n	splice_site_del	15	11.76	2	DEL	1.000	-
BCL9L	283149	genome.wustl.edu	37	11	118769652	118769652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr11:118769652delG	ENST00000334801.3	-	8	4936	c.3972delC	c.(3970-3972)ttcfs	p.F1324fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1324	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGACAAGTCGAACTCGGGGA	0.637																																						dbGAP											0													57.0	59.0	59.0					11																	118769652		2200	4295	6495	-	-	-	SO:0001589	frameshift_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3972delC	11.37:g.118769652delG	ENSP00000335320:p.Phe1324fs		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	pfam_BCL9_beta-catenin-bd_dom	p.F1324fs	ENST00000334801.3	37	c.3972	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.637	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	85	0.00	0	G	NM_182557		118769652	118769652	-1	no_errors	ENST00000334801	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.993	-
COL5A1	1289	genome.wustl.edu	37	9	137687132	137687132	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr9:137687132C>T	ENST00000371817.3	+	34	3184	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	924	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGCCCCCGGGGCATCAC	0.637																																						dbGAP											0													71.0	76.0	75.0					9																	137687132		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2770C>T	9.37:g.137687132C>T	ENSP00000360882:p.Arg924Trp		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.R924W	ENST00000371817.3	37	c.2770	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607356	0.66558	.	.	ENSG00000130635	ENST00000371817	D	0.94376	-3.41	4.22	3.21	0.36854	.	0.000000	0.85682	U	0.000000	D	0.95519	0.8544	M	0.73962	2.25	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	D	0.95038	0.8175	10	0.72032	D	0.01	.	9.2412	0.37498	0.5275:0.4725:0.0:0.0	.	924	P20908	CO5A1_HUMAN	W	924	ENSP00000360882:R924W	ENSP00000360882:R924W	R	+	1	2	COL5A1	136826953	0.809000	0.29036	1.000000	0.80357	0.836000	0.47400	1.595000	0.36708	1.904000	0.55121	0.297000	0.19635	CGG	COL5A1	-	NULL	ENSG00000130635		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	128	0.00	0	C	NM_000093		137687132	137687132	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.985	T
CRIPAK	285464	genome.wustl.edu	37	4	1388682	1388683	+	Frame_Shift_Ins	INS	-	-	CA	rs550973267	byFrequency	TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr4:1388682_1388683insCA	ENST00000324803.4	+	1	3343_3344	c.383_384insCA	c.(382-387)ctcacafs	p.LT128fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	128					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACACGTGCCC	0.693														110	0.0219649	0.0144	0.0259	5008	,	,		13611	0.0188		0.0447	False		,,,				2504	0.0092					dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.386_387dupCA	4.37:g.1388685_1388686dupCA	ENSP00000323978:p.Leu128fs		Q8NB03	Frame_Shift_Ins	INS	smart_Post-SET_dom	p.R130fs	ENST00000324803.4	37	c.383_384	CCDS3349.1	4																																																																																			CRIPAK	-	NULL	ENSG00000179979		0.693	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	HGNC	protein_coding	OTTHUMT00000241607.2	106	0.93	1	-	NM_175918		1388682	1388683	+1	no_errors	ENST00000324803	ensembl	human	known	69_37n	frame_shift_ins	17	15.00	3	INS	0.006:0.026	CA
CTC1	80169	genome.wustl.edu	37	17	8138378	8138378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr17:8138378delC	ENST00000315684.8	-	8	1439	c.1432delG	c.(1432-1434)gccfs	p.A478fs	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	478					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACTTGCAGGCCAGCTCCTCC	0.622																																						dbGAP											0													35.0	39.0	38.0					17																	8138378		2063	4211	6274	-	-	-	SO:0001589	frameshift_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1432delG	17.37:g.8138378delC	ENSP00000313759:p.Ala478fs		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Frame_Shift_Del	DEL	NULL	p.A478fs	ENST00000315684.8	37	c.1432	CCDS42259.1	17																																																																																			CTC1	-	NULL	ENSG00000178971		0.622	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	46	0.00	0	C	NM_025099		8138378	8138378	-1	no_errors	ENST00000315684	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.871	-
CTCF	10664	genome.wustl.edu	37	16	67670628	67670628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr16:67670628G>T	ENST00000264010.4	+	11	2317	c.1873G>T	c.(1873-1875)Gag>Tag	p.E625*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.E297*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	625					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAATGAGGATGAGGAGGAGCC	0.557																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											0													80.0	84.0	83.0					16																	67670628		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1873G>T	16.37:g.67670628G>T	ENSP00000264010:p.Glu625*		B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E625*	ENST00000264010.4	37	c.1873	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	G	40	7.974697	0.98591	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-0.6818	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	625;297	.	ENSP00000264010:E625X	E	+	1	0	CTCF	66228129	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.584000	0.82572	2.814000	0.96858	0.591000	0.81541	GAG	CTCF	-	NULL	ENSG00000102974		0.557	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	94	0.00	0	G	NM_006565		67670628	67670628	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	nonsense	0	100.00	29	SNP	1.000	T
DAB2IP	153090	genome.wustl.edu	37	9	124522318	124522318	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr9:124522318G>A	ENST00000408936.3	+	6	952	c.770G>A	c.(769-771)gGc>gAc	p.G257D	DAB2IP_ENST00000259371.2_Missense_Mutation_p.G229D|DAB2IP_ENST00000309989.1_Missense_Mutation_p.G133D			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	257	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTTTTCTGGGGCGAGCACTTC	0.577																																						dbGAP											0													120.0	112.0	115.0					9																	124522318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.770G>A	9.37:g.124522318G>A	ENSP00000386183:p.Gly257Asp		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.G257D	ENST00000408936.3	37	c.770		9	.	.	.	.	.	.	.	.	.	.	G	31	5.068348	0.93950	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T;T;T	0.77098	-1.07;-0.36;-0.36;-0.36;-0.36;-0.36	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92385	0.5916	10	0.87932	D	0	.	17.2562	0.87057	0.0:0.0:1.0:0.0	.	229	G3XA90	.	D	229;133;229;257;166;133	ENSP00000377872:G229D;ENSP00000409327:G133D;ENSP00000259371:G229D;ENSP00000386183:G257D;ENSP00000362887:G166D;ENSP00000310827:G133D	ENSP00000259371:G229D	G	+	2	0	DAB2IP	123562139	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.377000	0.81083	0.561000	0.74099	GGC	DAB2IP	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000136848		0.577	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	91	0.00	0	G	NM_032552		124522318	124522318	+1	no_errors	ENST00000408936	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	1.000	A
DRD3	1814	genome.wustl.edu	37	3	113890710	113890710	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr3:113890710C>T	ENST00000460779.1	-	3	419	c.130G>A	c.(130-132)Gtc>Atc	p.V44I	DRD3_ENST00000383673.2_Missense_Mutation_p.V44I|DRD3_ENST00000467632.1_Missense_Mutation_p.V44I|DRD3_ENST00000295881.7_Missense_Mutation_p.V44I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	44					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTGCCGAAGACGATGGCCAGG	0.607																																						dbGAP											0													78.0	69.0	72.0					3																	113890710		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.130G>A	3.37:g.113890710C>T	ENSP00000419402:p.Val44Ile		A1A4V5|Q4VBM8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D3_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.V44I	ENST00000460779.1	37	c.130	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037105	0.35893	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.0	-5.2	0.02823	.	0.433653	0.24613	N	0.037028	T	0.15219	0.0367	N	0.04508	-0.205	0.36997	D	0.895059	B;B;B;B	0.15719	0.007;0.014;0.007;0.0	B;B;B;B	0.11329	0.006;0.006;0.006;0.001	T	0.05225	-1.0898	10	0.27785	T	0.31	.	15.6264	0.76863	0.0:0.3522:0.0:0.6478	.	44;44;44;44	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	44	ENSP00000419402:V44I;ENSP00000420662:V44I;ENSP00000373169:V44I;ENSP00000295881:V44I	ENSP00000281274:V44I	V	-	1	0	DRD3	115373400	0.003000	0.15002	0.616000	0.29078	0.910000	0.53928	-0.259000	0.08721	-1.167000	0.02779	-0.768000	0.03414	GTC	DRD3	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn	ENSG00000151577		0.607	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	129	0.00	0	C	NM_000796.3		113890710	113890710	-1	no_errors	ENST00000383673	ensembl	human	known	69_37n	missense	9	59.09	13	SNP	0.481	T
MICU3	286097	genome.wustl.edu	37	8	16944521	16944521	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr8:16944521G>C	ENST00000318063.5	+	7	868	c.826G>C	c.(826-828)Gat>Cat	p.D276H		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	276						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AATTAAAGGAGATGAAGAAAA	0.313																																						dbGAP											0													99.0	107.0	104.0					8																	16944521		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.826G>C	8.37:g.16944521G>C	ENSP00000321455:p.Asp276His		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D276H	ENST00000318063.5	37	c.826	CCDS5999.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.941662|3.941662	0.73557|0.73557	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.67865|.	-0.29|.	5.46|5.46	5.46|5.46	0.80206|0.80206	EF-hand-like domain (1);|.	0.202363|.	0.42964|.	D|.	0.000638|.	T|T	0.68851|0.68851	0.3046|0.3046	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P|.	0.43169|.	0.8|.	B|.	0.43360|.	0.417|.	T|T	0.64364|0.64364	-0.6425|-0.6425	10|5	0.56958|.	D|.	0.05|.	-20.3102|-20.3102	18.228|18.228	0.89924|0.89924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	276|.	Q86XE3|.	EFHA2_HUMAN|.	H|D	276|133	ENSP00000321455:D276H|.	ENSP00000321455:D276H|.	D|E	+|+	1|3	0|2	EFHA2|EFHA2	16988892|16988892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.646000|6.646000	0.74348|0.74348	2.733000|2.733000	0.93635|0.93635	0.585000|0.585000	0.79938|0.79938	GAT|GAG	EFHA2	-	NULL	ENSG00000155970		0.313	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	504	0.00	0	G	NM_181723		16944521	16944521	+1	no_errors	ENST00000318063	ensembl	human	known	69_37n	missense	147	39.00	94	SNP	1.000	C
AGO1	26523	genome.wustl.edu	37	1	36359982	36359982	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr1:36359982G>A	ENST00000373204.4	+	7	1064	c.851G>A	c.(850-852)cGt>cAt	p.R284H	AGO1_ENST00000373206.1_Missense_Mutation_p.R209H	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	284	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AATGTTACCCGTCGCCCTGCT	0.507																																						dbGAP											0													167.0	123.0	137.0					1																	36359982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.851G>A	1.37:g.36359982G>A	ENSP00000362300:p.Arg284His		Q5TA57|Q6P4S0	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R284H	ENST00000373204.4	37	c.851	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503993	0.64410	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.13778	2.56;2.95	5.24	5.24	0.73138	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	M	0.74467	2.265	0.80722	D	1	B	0.09022	0.002	B	0.19391	0.025	T	0.03957	-1.0989	10	0.66056	D	0.02	-21.5738	19.0006	0.92832	0.0:0.0:1.0:0.0	.	284	Q9UL18	AGO1_HUMAN	H	209;284	ENSP00000362302:R209H;ENSP00000362300:R284H	ENSP00000362300:R284H	R	+	2	0	EIF2C1	36132569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.721000	0.93114	0.591000	0.81541	CGT	EIF2C1	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000092847		0.507	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	207	0.00	0	G			36359982	36359982	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	missense	31	50.00	31	SNP	1.000	A
EXTL3	2137	genome.wustl.edu	37	8	28595139	28595139	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr8:28595139G>C	ENST00000220562.4	+	5	3282	c.2380G>C	c.(2380-2382)Gag>Cag	p.E794Q	EXTL3_ENST00000523149.1_Missense_Mutation_p.E410Q|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	794					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTACTCCTGTGAGCTGTCCAT	0.532											OREG0005476	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=EXTL3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										dbGAP											0													179.0	148.0	158.0					8																	28595139		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2380G>C	8.37:g.28595139G>C	ENSP00000220562:p.Glu794Gln	803	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.E794Q	ENST00000220562.4	37	c.2380	CCDS6070.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.77|13.77	2.337509|2.337509	0.41398|0.41398	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000523149;ENST00000220562;ENST00000521532;ENST00000517738|ENST00000521473	D;D;D;D|.	0.86097|.	-2.07;-2.07;-2.07;-2.07|.	4.94|4.94	4.06|4.06	0.47325|0.47325	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.57036|.	0.2026|.	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	P|.	0.41848|.	0.763|.	P|.	0.50754|.	0.649|.	T|.	0.53718|.	-0.8399|.	10|.	0.33940|.	T|.	0.23|.	-30.6121|-30.6121	13.214|13.214	0.59844|0.59844	0.0763:0.0:0.9237:0.0|0.0763:0.0:0.9237:0.0	.|.	794|.	O43909|.	EXTL3_HUMAN|.	Q|S	410;794;92;40|127	ENSP00000428691:E410Q;ENSP00000220562:E794Q;ENSP00000431013:E92Q;ENSP00000430652:E40Q|.	ENSP00000220562:E794Q|.	E|X	+|+	1|2	0|2	EXTL3|EXTL3	28651058|28651058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.559000|9.559000	0.98135|0.98135	1.322000|1.322000	0.45245|0.45245	0.650000|0.650000	0.86243|0.86243	GAG|TGA	EXTL3	-	pfam_HexNAc_Trfase_a	ENSG00000012232		0.532	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	241	0.00	0	G	NM_001440		28595139	28595139	+1	no_errors	ENST00000220562	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	C
SPATA31A6	389730	genome.wustl.edu	37	9	43624850	43624850	+	Silent	SNP	C	C	T	rs201333660	byFrequency	TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr9:43624850C>T	ENST00000332857.6	-	4	3865	c.3837G>A	c.(3835-3837)agG>agA	p.R1279R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1279					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTGATTTGCCTGTCTCTGT	0.512																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3837G>A	9.37:g.43624850C>T				Silent	SNP	NULL	p.R1279	ENST00000332857.6	37	c.3837	CCDS47973.1	9																																																																																			FAM75A6	-	NULL	ENSG00000185775		0.512	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A6	HGNC	protein_coding	OTTHUMT00000036987.1	92	0.00	0	C	NM_001145196		43624850	43624850	-1	no_errors	ENST00000332857	ensembl	human	known	69_37n	silent	25	10.71	3	SNP	0.001	T
FAM83G	644815	genome.wustl.edu	37	17	18891586	18891586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr17:18891586delC	ENST00000388995.6	-	3	887	c.664delG	c.(664-666)gccfs	p.A222fs	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Del_p.A222fs|FAM83G_ENST00000345041.4_Frame_Shift_Del_p.A222fs|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	222					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGCATGCAGGCCCGCTCACAC	0.567																																						dbGAP											0													94.0	98.0	97.0					17																	18891586		2095	4225	6320	-	-	-	SO:0001589	frameshift_variant	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.664delG	17.37:g.18891586delC	ENSP00000373647:p.Ala222fs		Q3KQZ4|Q6ZW60	Frame_Shift_Del	DEL	pfam_DUF1669	p.A222fs	ENST00000388995.6	37	c.664	CCDS42276.1	17																																																																																			FAM83G	-	pfam_DUF1669	ENSG00000188522		0.567	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	101	0.00	0	C			18891586	18891586	-1	no_errors	ENST00000345041	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
FANCD2	2177	genome.wustl.edu	37	3	10106486	10106486	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr3:10106486C>T	ENST00000419585.1	+	23	2256	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	FANCD2_ENST00000383807.1_Missense_Mutation_p.L699F|FANCD2_ENST00000287647.3_Missense_Mutation_p.L699F|FANCD2_ENST00000383806.1_Missense_Mutation_p.L699F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	699					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCCATAAACCTCCTGCCGCT	0.463			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													96.0	105.0	102.0					3																	10106486		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2095C>T	3.37:g.10106486C>T	ENSP00000398754:p.Leu699Phe		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L699F	ENST00000419585.1	37	c.2095	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554144	0.45487	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.65	5.65	0.86999	.	0.059519	0.64402	D	0.000002	T	0.75693	0.3884	M	0.79805	2.47	0.39908	D	0.973989	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.79009	-0.1978	10	0.72032	D	0.01	.	12.5651	0.56306	0.1661:0.8338:0.0:0.0	.	699;699	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	F	699	ENSP00000287647:L699F;ENSP00000373318:L699F;ENSP00000373317:L699F;ENSP00000398754:L699F	ENSP00000287647:L699F	L	+	1	0	FANCD2	10081486	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	3.640000	0.54350	2.843000	0.97960	0.585000	0.79938	CTC	FANCD2	-	NULL	ENSG00000144554		0.463	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	127	0.00	0	C			10106486	10106486	+1	no_errors	ENST00000287647	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240374531	240374531	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr1:240374531A>G	ENST00000319653.9	+	6	4291	c.4061A>G	c.(4060-4062)aAa>aGa	p.K1354R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1354	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACGAAGGCTAAACAAGTGAGT	0.343																																						dbGAP											0													104.0	107.0	106.0					1																	240374531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4061A>G	1.37:g.240374531A>G	ENSP00000318884:p.Lys1354Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.K1354R	ENST00000319653.9	37	c.4061	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.915423	0.52546	.	.	ENSG00000155816	ENST00000319653	T	0.18810	2.19	4.95	4.95	0.65309	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000003	T	0.33990	0.0882	L	0.55017	1.72	0.80722	D	1	P	0.37548	0.599	P	0.50378	0.639	T	0.03840	-1.0999	10	0.31617	T	0.26	.	14.6188	0.68569	1.0:0.0:0.0:0.0	.	1354	Q9NZ56	FMN2_HUMAN	R	1354	ENSP00000318884:K1354R	ENSP00000318884:K1354R	K	+	2	0	FMN2	238441154	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.950000	0.93019	1.860000	0.53959	0.528000	0.53228	AAA	FMN2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.343	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	316	0.00	0	A	XM_371352		240374531	240374531	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	72	50.34	73	SNP	1.000	G
FRY	10129	genome.wustl.edu	37	13	32869412	32869412	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr13:32869412C>T	ENST00000380250.3	+	61	9353	c.8857C>T	c.(8857-8859)Cgt>Tgt	p.R2953C	FRY_ENST00000542859.1_Missense_Mutation_p.R323C|FRY_ENST00000380217.1_Missense_Mutation_p.R135C|RP11-37E23.5_ENST00000418076.1_RNA	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2953						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TATTTATTTCCGTCACCAAAC	0.483																																						dbGAP											0													119.0	110.0	113.0					13																	32869412		1894	4118	6012	-	-	-	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8857C>T	13.37:g.32869412C>T	ENSP00000369600:p.Arg2953Cys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R2953C	ENST00000380250.3	37	c.8857	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439488	0.83885	.	.	ENSG00000073910	ENST00000380250;ENST00000542859;ENST00000380217	T	0.29655	1.56	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.58387	-0.7645	10	0.87932	D	0	.	19.5525	0.95326	0.0:1.0:0.0:0.0	.	2953	Q5TBA9	FRY_HUMAN	C	2953;323;135	ENSP00000369600:R2953C	ENSP00000369565:R135C	R	+	1	0	FRY	31767412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.040000	0.49799	2.626000	0.88956	0.650000	0.86243	CGT	FRY	-	NULL	ENSG00000073910		0.483	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	271	0.00	0	C	NM_023037		32869412	32869412	+1	no_errors	ENST00000380250	ensembl	human	known	69_37n	missense	46	43.90	36	SNP	1.000	T
GALNT11	63917	genome.wustl.edu	37	7	151807732	151807732	+	Splice_Site	SNP	T	T	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr7:151807732T>A	ENST00000434507.1	+	9	1517		c.e9+2		GALNT11_ENST00000452146.2_Splice_Site|GALNT11_ENST00000430044.2_Splice_Site|GALNT11_ENST00000320311.2_Splice_Site			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11						cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TCATTTCGGGTAATTTAATTT	0.318																																						dbGAP											0													123.0	131.0	128.0					7																	151807732		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1080+2T>A	7.37:g.151807732T>A			B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Splice_Site	SNP	-	e6+2	ENST00000434507.1	37	c.1080+2	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851969	0.71719	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	.	.	.	5.16	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7162	0.46013	0.0:0.0749:0.0:0.9251	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT11	151438665	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.975000	0.88055	0.806000	0.34183	0.459000	0.35465	.	GALNT11	-	-	ENSG00000178234		0.318	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	391	0.00	0	T	NM_022087	Intron	151807732	151807732	+1	no_errors	ENST00000320311	ensembl	human	known	69_37n	splice_site	171	11.40	22	SNP	1.000	A
GUCY2F	2986	genome.wustl.edu	37	X	108718516	108718516	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chrX:108718516C>A	ENST00000218006.2	-	2	941	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	217					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGGACGACCCCTACAGGTAA	0.552											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													90.0	78.0	82.0					X																	108718516		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.650G>T	X.37:g.108718516C>A	ENSP00000218006:p.Gly217Val	1414	Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.G217V	ENST00000218006.2	37	c.650	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931912	0.73442	.	.	ENSG00000101890	ENST00000218006	T	0.80123	-1.34	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.107187	0.64402	D	0.000008	T	0.78419	0.4280	L	0.49455	1.56	0.80722	D	1	B	0.28208	0.203	B	0.36378	0.223	T	0.74624	-0.3603	10	0.29301	T	0.29	.	14.6651	0.68901	0.0:1.0:0.0:0.0	.	217	P51841	GUC2F_HUMAN	V	217	ENSP00000218006:G217V	ENSP00000218006:G217V	G	-	2	0	GUCY2F	108605172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.403000	0.59729	2.433000	0.82419	0.594000	0.82650	GGG	GUCY2F	-	pfam_ANF_lig-bd_rcpt	ENSG00000101890		0.552	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	100	0.99	1	C	NM_001522		108718516	108718516	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
HAS3	3038	genome.wustl.edu	37	16	69148464	69148464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr16:69148464delC	ENST00000306560.1	+	4	1113	c.957delC	c.(955-957)cacfs	p.H319fs	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Frame_Shift_Del_p.H319fs	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	319					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		ATGACCGGCACCTCACCAACC	0.592																																						dbGAP											0													83.0	72.0	75.0					16																	69148464		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.957delC	16.37:g.69148464delC	ENSP00000304440:p.His319fs		A8K5T5|Q8WTZ0|Q9NYP0	Frame_Shift_Del	DEL	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.L320fs	ENST00000306560.1	37	c.957	CCDS10871.1	16																																																																																			HAS3	-	pfam_Chitin_synth_fng	ENSG00000103044		0.592	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2	91	0.00	0	C	NM_138612		69148464	69148464	+1	no_errors	ENST00000306560	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	1.000	-
HECTD4	283450	genome.wustl.edu	37	12	112657218	112657218	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr12:112657218delG	ENST00000430131.2	-	44	6925	c.5780delC	c.(5779-5781)ccafs	p.P1929fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.P2179fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.P2205fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1929					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAAAGGAGGTGGTGGGGGCCG	0.592																																						dbGAP											0													64.0	73.0	70.0					12																	112657218		2066	4195	6261	-	-	-	SO:0001589	frameshift_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5780delC	12.37:g.112657218delG	ENSP00000404379:p.Pro1929fs		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.P2177fs	ENST00000430131.2	37	c.6530		12																																																																																			HECTD4	-	superfamily_ConA-like_lec_gl	ENSG00000173064		0.592	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		93	0.00	0	G	NM_173813		112657218	112657218	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	1.000	-
HYOU1	10525	genome.wustl.edu	37	11	118925916	118925916	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr11:118925916C>A	ENST00000404233.3	-	5	524	c.400G>T	c.(400-402)Gtg>Ttg	p.V134L	HYOU1_ENST00000525859.1_Missense_Mutation_p.V134L|HYOU1_ENST00000529972.1_Missense_Mutation_p.V134L|HYOU1_ENST00000543287.1_Missense_Mutation_p.V47L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TGAAAGTGCACAGTCTGCCTC	0.582																																						dbGAP											0													113.0	103.0	106.0					11																	118925916		2200	4295	6495	-	-	-	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.400G>T	11.37:g.118925916C>A	ENSP00000384144:p.Val134Leu		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.V134L	ENST00000404233.3	37	c.400	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380532	0.82792	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01106	5.33;5.33;5.33;5.33;5.33	5.55	5.55	0.83447	.	0.057330	0.64402	D	0.000001	T	0.02970	0.0088	M	0.66378	2.025	0.80722	D	1	P;P;P;P	0.38148	0.62;0.549;0.62;0.62	B;B;B;B	0.40066	0.318;0.161;0.217;0.217	T	0.56420	-0.7982	10	0.42905	T	0.14	-25.4077	19.5117	0.95144	0.0:1.0:0.0:0.0	.	125;178;134;134	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	L	134;125;134;134;134;134;177;47;134	ENSP00000384144:V134L;ENSP00000437313:V134L;ENSP00000433397:V134L;ENSP00000442727:V47L;ENSP00000431874:V134L	ENSP00000278752:V125L	V	-	1	0	HYOU1	118431126	0.998000	0.40836	1.000000	0.80357	0.842000	0.47809	5.516000	0.67055	2.595000	0.87683	0.561000	0.74099	GTG	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.582	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	132	0.00	0	C	NM_006389		118925916	118925916	-1	no_errors	ENST00000404233	ensembl	human	known	69_37n	missense	0	100.00	12	SNP	0.999	A
KCNS3	3790	genome.wustl.edu	37	2	18112662	18112662	+	Silent	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr2:18112662C>T	ENST00000403915.1	+	3	838	c.387C>T	c.(385-387)caC>caT	p.H129H	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.H129H	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	129					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGAAAACCACGAGAAGGACT	0.493																																						dbGAP											0													111.0	113.0	112.0					2																	18112662		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.387C>T	2.37:g.18112662C>T			D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.H129	ENST00000403915.1	37	c.387	CCDS1692.1	2																																																																																			KCNS3	-	superfamily_BTB/POZ_fold	ENSG00000170745		0.493	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	151	0.00	0	C	NM_002252		18112662	18112662	+1	no_errors	ENST00000304101	ensembl	human	known	69_37n	silent	27	34.15	14	SNP	0.038	T
KIAA0922	23240	genome.wustl.edu	37	4	154471282	154471282	+	Silent	SNP	T	T	C			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr4:154471282T>C	ENST00000409663.3	+	4	349	c.297T>C	c.(295-297)gaT>gaC	p.D99D	KIAA0922_ENST00000440693.1_Silent_p.D99D|KIAA0922_ENST00000409959.3_Silent_p.D99D	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	99						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGTTTTAGATTTTGGAATAC	0.239																																						dbGAP											0													98.0	79.0	85.0					4																	154471282		692	1585	2277	-	-	-	SO:0001819	synonymous_variant	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.297T>C	4.37:g.154471282T>C			B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	pfam_DUF3651_TMEM131	p.D99	ENST00000409663.3	37	c.297	CCDS3783.2	4																																																																																			KIAA0922	-	NULL	ENSG00000121210		0.239	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	276	0.00	0	T	NM_015196		154471282	154471282	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	silent	170	43.89	133	SNP	1.000	C
LIF	3976	genome.wustl.edu	37	22	30639826	30639826	+	Silent	SNP	G	G	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr22:30639826G>A	ENST00000249075.3	-	3	578	c.423C>T	c.(421-423)gcC>gcT	p.A141A	LIF_ENST00000403987.3_Nonsense_Mutation_p.R82*|RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	141					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCAGGATGTCGGCGGTGGCGT	0.627																																						dbGAP											0													204.0	175.0	185.0					22																	30639826		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.423C>T	22.37:g.30639826G>A			B2RCW7|B5MC23|Q52LZ2	Nonsense_Mutation	SNP	NULL	p.R82*	ENST00000249075.3	37	c.244	CCDS13872.1	22	.	.	.	.	.	.	.	.	.	.	G	1.667	-0.510042	0.04231	.	.	ENSG00000128342	ENST00000403987	.	.	.	4.99	-9.97	0.00440	.	.	.	.	.	.	.	.	.	.	.	0.23720	N	0.997023	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3336	4.6748	0.12706	0.1319:0.1033:0.4121:0.3527	.	.	.	.	X	82	.	ENSP00000384450:R82X	R	-	1	2	LIF	28969826	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-2.330000	0.01110	-5.700000	0.00010	-2.589000	0.00165	CGA	LIF	-	NULL	ENSG00000128342		0.627	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIF	HGNC	protein_coding	OTTHUMT00000320508.1	432	0.00	0	G	NM_002309		30639826	30639826	-1	no_errors	ENST00000403987	ensembl	human	putative	69_37n	nonsense	8	85.71	54	SNP	0.000	A
MADD	8567	genome.wustl.edu	37	11	47303974	47303974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr11:47303974delG	ENST00000311027.5	+	9	1677	c.1512delG	c.(1510-1512)cagfs	p.Q504fs	MADD_ENST00000349238.3_Frame_Shift_Del_p.Q504fs|MADD_ENST00000395336.3_Frame_Shift_Del_p.Q504fs|MADD_ENST00000395344.3_Frame_Shift_Del_p.Q504fs|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402799.1_Frame_Shift_Del_p.Q504fs|MADD_ENST00000406482.1_Frame_Shift_Del_p.Q504fs|MADD_ENST00000342922.4_Frame_Shift_Del_p.Q504fs|MADD_ENST00000402192.2_Frame_Shift_Del_p.Q504fs|MADD_ENST00000407859.3_Frame_Shift_Del_p.Q504fs	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACGTGCTGCAGGGATTTCAGA	0.547																																						dbGAP											0													114.0	109.0	111.0					11																	47303974		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1512delG	11.37:g.47303974delG	ENSP00000310933:p.Gln504fs			Frame_Shift_Del	DEL	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G505fs	ENST00000311027.5	37	c.1512	CCDS7930.1	11																																																																																			MADD	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000110514		0.547	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	139	0.00	0	G			47303974	47303974	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
NFATC2	4773	genome.wustl.edu	37	20	50048860	50048860	+	Silent	SNP	G	G	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr20:50048860G>A	ENST00000396009.3	-	9	2685	c.2466C>T	c.(2464-2466)tgC>tgT	p.C822C	NFATC2_ENST00000610033.1_Silent_p.C603C|NFATC2_ENST00000371564.3_Silent_p.C822C|NFATC2_ENST00000414705.1_Silent_p.C802C|NFATC2_ENST00000609943.1_Silent_p.C802C|NFATC2_ENST00000609507.1_Silent_p.C603C	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	822					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTGGCTTCCGCAGCGCAGCT	0.642																																						dbGAP											0													56.0	57.0	57.0					20																	50048860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2466C>T	20.37:g.50048860G>A			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD	p.C822	ENST00000396009.3	37	c.2466	CCDS13437.1	20																																																																																			NFATC2	-	NULL	ENSG00000101096		0.642	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	102	0.97	1	G	NM_012340		50048860	50048860	-1	no_errors	ENST00000396009	ensembl	human	known	69_37n	silent	15	50.00	15	SNP	0.944	A
NTM	50863	genome.wustl.edu	37	11	132180029	132180029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr11:132180029delA	ENST00000374786.1	+	5	1164	c.685delA	c.(685-687)aagfs	p.K229fs	NTM_ENST00000374784.1_Frame_Shift_Del_p.K229fs|NTM_ENST00000539799.1_Frame_Shift_Del_p.K229fs|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Frame_Shift_Del_p.K229fs|NTM_ENST00000374791.3_Frame_Shift_Del_p.K229fs|NTM_ENST00000427481.2_Frame_Shift_Del_p.K220fs	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	229	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTCAGAAGCCAAGGGTACAGG	0.478																																						dbGAP											0													125.0	130.0	128.0					11																	132180029		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.685delA	11.37:g.132180029delA	ENSP00000363918:p.Lys229fs		A0MTT2|Q6UXJ3|Q86VJ9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K229fs	ENST00000374786.1	37	c.685	CCDS8491.1	11																																																																																			NTM	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000182667		0.478	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	105	0.00	0	A	NM_016522		132180029	132180029	+1	no_errors	ENST00000539799	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.998	-
PALMD	54873	genome.wustl.edu	37	1	100154698	100154698	+	Silent	SNP	G	G	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr1:100154698G>A	ENST00000263174.4	+	7	1257	c.882G>A	c.(880-882)ctG>ctA	p.L294L	PALMD_ENST00000605497.1_Silent_p.L294L	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	294					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTAATGGACTGGGTATTGGTG	0.438																																						dbGAP											0													81.0	79.0	80.0					1																	100154698		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.882G>A	1.37:g.100154698G>A			Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Silent	SNP	pfam_Paralemmin	p.L294	ENST00000263174.4	37	c.882	CCDS758.1	1																																																																																			PALMD	-	NULL	ENSG00000099260		0.438	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	185	0.00	0	G	NM_017734		100154698	100154698	+1	no_errors	ENST00000263174	ensembl	human	known	69_37n	silent	61	33.70	31	SNP	0.002	A
PARD3	56288	genome.wustl.edu	37	10	34620061	34620061	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr10:34620061A>T	ENST00000374789.3	-	19	3151	c.2826T>A	c.(2824-2826)gaT>gaA	p.D942E	PARD3_ENST00000374788.3_Missense_Mutation_p.D939E|PARD3_ENST00000544292.1_Missense_Mutation_p.D655E|PARD3_ENST00000374776.1_Missense_Mutation_p.D896E|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000346874.4_Missense_Mutation_p.D942E|PARD3_ENST00000374773.1_Missense_Mutation_p.D909E|PARD3_ENST00000374790.3_Missense_Mutation_p.D882E|PARD3_ENST00000545260.1_Missense_Mutation_p.D852E|PARD3_ENST00000545693.1_Missense_Mutation_p.D926E|PARD3_ENST00000350537.4_Missense_Mutation_p.D896E|PARD3_ENST00000340077.5_Missense_Mutation_p.D939E|PARD3_ENST00000374794.3_Missense_Mutation_p.D867E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	942					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCATGCCTTCATCATCATCAT	0.438																																						dbGAP											0													97.0	88.0	91.0					10																	34620061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2826T>A	10.37:g.34620061A>T	ENSP00000363921:p.Asp942Glu		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D942E	ENST00000374789.3	37	c.2826	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906592	0.52333	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.87	-6.58	0.01836	.	0.044108	0.85682	D	0.000000	T	0.44414	0.1292	M	0.64404	1.975	0.39085	D	0.960983	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.996;0.997;0.996;0.996;0.996;0.998;0.996;0.996;0.992;0.992;0.992;0.996;0.996;0.996;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.997;0.99;0.997;0.997;0.997;0.997;0.997;0.992;0.992;0.992;0.992;0.997;0.995;0.997;0.997	T	0.62167	-0.6911	10	0.16420	T	0.52	.	18.0749	0.89424	0.3927:0.0:0.6073:0.0	.	867;852;896;896;926;942;939;942;882;926;909;939;896;908;655	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	E	926;852;942;939;942;867;896;882;896;939;909;655	ENSP00000443147:D926E;ENSP00000440857:D852E;ENSP00000363921:D942E;ENSP00000363920:D939E;ENSP00000340591:D942E;ENSP00000363926:D867E;ENSP00000311986:D896E;ENSP00000363922:D882E;ENSP00000363908:D896E;ENSP00000341844:D939E;ENSP00000363905:D909E;ENSP00000444429:D655E	ENSP00000341844:D939E	D	-	3	2	PARD3	34660067	0.653000	0.27358	0.576000	0.28549	0.642000	0.38348	-0.098000	0.11024	-1.406000	0.02045	-1.069000	0.02264	GAT	PARD3	-	NULL	ENSG00000148498		0.438	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	242	0.41	1	A	NM_019619		34620061	34620061	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	missense	28	46.15	24	SNP	0.316	T
PDCD1	5133	genome.wustl.edu	37	2	242793270	242793270	+	Silent	SNP	G	G	A	rs368411538		TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr2:242793270G>A	ENST00000334409.5	-	5	876	c.807C>T	c.(805-807)gaC>gaT	p.D269D		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	269					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TCCGAGGGCCGTCAGCTGAGC	0.657																																						dbGAP											0													27.0	30.0	29.0					2																	242793270		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.807C>T	2.37:g.242793270G>A			O00517|Q8IX89	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D269	ENST00000334409.5	37	c.807	CCDS33428.1	2																																																																																			PDCD1	-	NULL	ENSG00000188389		0.657	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1	HGNC	protein_coding	OTTHUMT00000322313.1	32	0.00	0	G	NM_005018		242793270	242793270	-1	no_errors	ENST00000334409	ensembl	human	known	69_37n	silent	8	60.00	12	SNP	0.000	A
PRPF39	55015	genome.wustl.edu	37	14	45566145	45566145	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr14:45566145A>G	ENST00000355765.6	+	4	676	c.506A>G	c.(505-507)tAt>tGt	p.Y169C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	169					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Y48C(1)|p.Y169C(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TGGATACATTATATAAACTTC	0.343																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											43.0	44.0	44.0					14																	45566145		2197	4280	6477	-	-	-	SO:0001583	missense	0			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.506A>G	14.37:g.45566145A>G	ENSP00000348010:p.Tyr169Cys		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	smart_HAT	p.Y169C	ENST00000355765.6	37	c.506	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	A	17.44	3.388940	0.61956	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.55052	0.54	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75414	-0.3326	10	0.87932	D	0	-42.7402	15.7259	0.77761	1.0:0.0:0.0:0.0	.	169;48	Q86UA1;F5H1P0	PRP39_HUMAN;.	C	169;48	ENSP00000348010:Y169C	ENSP00000348010:Y169C	Y	+	2	0	PRPF39	44635895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.045000	0.93812	2.200000	0.70718	0.482000	0.46254	TAT	PRPF39	-	smart_HAT	ENSG00000185246		0.343	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2	252	0.00	0	A			45566145	45566145	+1	no_errors	ENST00000355765	ensembl	human	known	69_37n	missense	94	35.81	53	SNP	1.000	G
PSD2	84249	genome.wustl.edu	37	5	139202313	139202313	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr5:139202313delG	ENST00000274710.3	+	7	1418	c.1213delG	c.(1213-1215)gggfs	p.G405fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	405	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCAGATGGGATCCACAC	0.617																																						dbGAP											0													103.0	68.0	80.0					5																	139202313		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1213delG	5.37:g.139202313delG	ENSP00000274710:p.Gly405fs		D3DQD3|Q8N3J8	Frame_Shift_Del	DEL	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.I406fs	ENST00000274710.3	37	c.1213	CCDS4216.1	5																																																																																			PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7	ENSG00000146005		0.617	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	54	0.00	0	G	NM_032289		139202313	139202313	+1	no_errors	ENST00000274710	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
PTPN5	84867	genome.wustl.edu	37	11	18765723	18765723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr11:18765723delC	ENST00000358540.2	-	4	551	c.121delG	c.(121-123)gagfs	p.E41fs	PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396168.1_Frame_Shift_Del_p.E17fs|PTPN5_ENST00000396167.2_Frame_Shift_Del_p.E41fs|PTPN5_ENST00000396170.1_Frame_Shift_Del_p.E41fs|PTPN5_ENST00000396171.4_Frame_Shift_Del_p.E41fs|PTPN5_ENST00000496201.2_5'UTR	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	41					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCCAGTGCCTCCATCACTATC	0.662																																						dbGAP											0													77.0	76.0	76.0					11																	18765723		2199	4293	6492	-	-	-	SO:0001589	frameshift_variant	0			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.121delG	11.37:g.18765723delC	ENSP00000351342:p.Glu41fs		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Frame_Shift_Del	DEL	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E41fs	ENST00000358540.2	37	c.121	CCDS7845.1	11																																																																																			PTPN5	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000110786		0.662	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	HGNC	protein_coding	OTTHUMT00000259196.2	103	0.00	0	C	NM_001039970		18765723	18765723	-1	no_errors	ENST00000358540	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.975	-
RETNLB	84666	genome.wustl.edu	37	3	108474726	108474726	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr3:108474726C>T	ENST00000295755.6	-	3	433	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	79					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CAGCCATAGCCACAAGCACAG	0.567																																						dbGAP											0													90.0	84.0	86.0					3																	108474726		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.235G>A	3.37:g.108474726C>T	ENSP00000295755:p.Gly79Ser		Q14D27	Missense_Mutation	SNP	pfam_Resistin,superfamily_Resistin	p.G79S	ENST00000295755.6	37	c.235	CCDS2953.1	3	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368297	0.82463	.	.	ENSG00000163515	ENST00000295755	T	0.69175	-0.38	4.14	4.14	0.48551	.	0.000000	0.47455	D	0.000221	T	0.80470	0.4629	M	0.75615	2.305	0.40010	D	0.975271	D	0.89917	1.0	D	0.91635	0.999	D	0.83917	0.0299	10	0.87932	D	0	-14.1886	13.9194	0.63921	0.0:1.0:0.0:0.0	.	79	Q9BQ08	RETNB_HUMAN	S	79	ENSP00000295755:G79S	ENSP00000295755:G79S	G	-	1	0	RETNLB	109957416	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	3.772000	0.55325	2.128000	0.65567	0.655000	0.94253	GGC	RETNLB	-	pfam_Resistin,superfamily_Resistin	ENSG00000163515		0.567	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETNLB	HGNC	protein_coding	OTTHUMT00000355093.1	70	0.00	0	C			108474726	108474726	-1	no_errors	ENST00000295755	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	T
RGPD8	727851	genome.wustl.edu	37	2	113161599	113161599	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr2:113161599A>T	ENST00000302558.3	-	9	1411	c.1220T>A	c.(1219-1221)aTt>aAt	p.I407N	RGPD8_ENST00000330575.5_Missense_Mutation_p.I407N|RGPD8_ENST00000409750.1_Missense_Mutation_p.I267N	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	407					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						AATTTTTCCAATATCATCGCT	0.373																																						dbGAP											0													1.0	1.0	1.0					2																	113161599		7	20	27	-	-	-	SO:0001583	missense	0			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.1220T>A	2.37:g.113161599A>T	ENSP00000306637:p.Ile407Asn		Q5CZA8	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.I407N	ENST00000302558.3	37	c.1220	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	-	10.37	1.331454	0.24167	.	.	ENSG00000169629	ENST00000302558;ENST00000409750;ENST00000330575	D;D;D	0.82255	-1.59;-1.59;-1.59	2.33	2.33	0.28932	.	.	.	.	.	D	0.86209	0.5878	L	0.60455	1.87	0.32670	N	0.516904	D;D	0.58970	0.983;0.984	P;P	0.62435	0.807;0.902	D	0.86445	0.1769	9	0.87932	D	0	-10.2747	8.2389	0.31645	1.0:0.0:0.0:0.0	.	407;407	F8W705;O14715	.;RGPD8_HUMAN	N	407;267;407	ENSP00000306637:I407N;ENSP00000386511:I267N;ENSP00000327486:I407N	ENSP00000306637:I407N	I	-	2	0	RGPD8	112878070	1.000000	0.71417	0.843000	0.33291	0.089000	0.18198	6.569000	0.73992	1.076000	0.40961	0.147000	0.16070	ATT	RGPD8	-	NULL	ENSG00000169629		0.373	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	74	0.00	0	A	XM_001722279		113161599	113161599	-1	no_errors	ENST00000302558	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.992	T
SCN11A	11280	genome.wustl.edu	37	3	38938447	38938447	+	Silent	SNP	G	G	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr3:38938447G>A	ENST00000302328.3	-	14	2490	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	SCN11A_ENST00000444237.2_Silent_p.I764I|SCN11A_ENST00000450244.1_Silent_p.I764I|SCN11A_ENST00000456224.3_Silent_p.I764I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	764					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCCGCAGAGGATGCGGAATA	0.473																																						dbGAP											0													124.0	113.0	117.0					3																	38938447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2292C>T	3.37:g.38938447G>A			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.I764	ENST00000302328.3	37	c.2292	CCDS33737.1	3																																																																																			SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	316	0.00	0	G	NM_014139		38938447	38938447	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	silent	34	46.88	30	SNP	0.999	A
SHROOM4	57477	genome.wustl.edu	37	X	50377366	50377366	+	Silent	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chrX:50377366C>T	ENST00000289292.7	-	4	1990	c.1707G>A	c.(1705-1707)agG>agA	p.R569R	SHROOM4_ENST00000376020.2_Silent_p.R569R|SHROOM4_ENST00000460112.3_Silent_p.R453R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	569					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCCACTTCGCCTACCACCCA	0.582																																						dbGAP											0													35.0	31.0	32.0					X																	50377366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1707G>A	X.37:g.50377366C>T			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R569	ENST00000289292.7	37	c.1707	CCDS35277.1	X																																																																																			SHROOM4	-	NULL	ENSG00000158352		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	116	0.00	0	C	NM_020717		50377366	50377366	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	silent	9	57.14	12	SNP	0.000	T
SYNDIG1L	646658	genome.wustl.edu	37	14	74876345	74876345	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr14:74876345delG	ENST00000554823.1	-	1	164	c.103delC	c.(103-105)cagfs	p.Q35fs	SYNDIG1L_ENST00000331628.3_Frame_Shift_Del_p.Q35fs			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	35					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						AGCTTTTCCTGGCAGGACCAG	0.662																																						dbGAP											0													35.0	40.0	39.0					14																	74876345		1937	4136	6073	-	-	-	SO:0001589	frameshift_variant	0				CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.103delC	14.37:g.74876345delG	ENSP00000450439:p.Gln35fs			Frame_Shift_Del	DEL	pfam_Interferon-induced_TM_protein	p.Q35fs	ENST00000554823.1	37	c.103	CCDS41970.1	14																																																																																			SYNDIG1L	-	NULL	ENSG00000183379		0.662	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	HGNC	protein_coding	OTTHUMT00000412341.1	64	0.00	0	G	XM_938515		74876345	74876345	-1	no_errors	ENST00000331628	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
SYNM	23336	genome.wustl.edu	37	15	99672941	99672941	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr15:99672941C>T	ENST00000336292.6	+	5	4493	c.4373C>T	c.(4372-4374)tCg>tTg	p.S1458L	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1459	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAAGAAACTTCGTTTACCTTT	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)	dbGAP											0													177.0	182.0	181.0					15																	99672941		2075	4208	6283	-	-	-	SO:0001583	missense	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4373C>T	15.37:g.99672941C>T	ENSP00000336775:p.Ser1458Leu		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.S1458L	ENST00000336292.6	37	c.4373		15	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046579	0.55110	.	.	ENSG00000182253	ENST00000336292	T	0.15834	2.39	5.55	2.67	0.31697	.	.	.	.	.	T	0.12092	0.0294	.	.	.	0.80722	D	1	P	0.34412	0.453	B	0.17722	0.019	T	0.06625	-1.0816	8	0.87932	D	0	.	9.9826	0.41821	0.0:0.7838:0.0:0.2162	.	1459	O15061	SYNEM_HUMAN	L	1458	ENSP00000336775:S1458L	ENSP00000336775:S1458L	S	+	2	0	SYNM	97490464	0.779000	0.28652	0.261000	0.24466	0.981000	0.71138	1.588000	0.36633	0.311000	0.23014	0.655000	0.94253	TCG	SYNM	-	NULL	ENSG00000182253		0.552	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	SYNM	HGNC	protein_coding		157	0.00	0	C	NM_145728		99672941	99672941	+1	no_errors	ENST00000336292	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.834	T
TBC1D10C	374403	genome.wustl.edu	37	11	67173127	67173127	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr11:67173127G>A	ENST00000542590.1	+	4	436	c.422G>A	c.(421-423)cGt>cAt	p.R141H	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.R141H|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.R141H			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	141	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCTGCACCGTCAATTCCCT	0.642																																						dbGAP											0													98.0	95.0	96.0					11																	67173127		2200	4295	6495	-	-	-	SO:0001583	missense	0			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.422G>A	11.37:g.67173127G>A	ENSP00000443654:p.Arg141His		G3V1D6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R141H	ENST00000542590.1	37	c.422	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628522	0.67015	.	.	ENSG00000175463	ENST00000526387;ENST00000312390;ENST00000542590	T;T;T	0.31769	1.48;1.48;1.48	4.86	4.86	0.63082	Rab-GAP/TBC domain (4);	0.000000	0.49916	D	0.000132	T	0.65606	0.2707	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76113	-0.3078	10	0.87932	D	0	.	16.749	0.85480	0.0:0.0:1.0:0.0	.	141;141	Q8IV04;G3V1D6	TB10C_HUMAN;.	H	141	ENSP00000435543:R141H;ENSP00000310193:R141H;ENSP00000443654:R141H	ENSP00000310193:R141H	R	+	2	0	TBC1D10C	66929703	1.000000	0.71417	0.997000	0.53966	0.213000	0.24496	5.602000	0.67612	2.245000	0.73994	0.455000	0.32223	CGT	TBC1D10C	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000175463		0.642	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	87	0.00	0	G	NM_198517		67173127	67173127	+1	no_errors	ENST00000312390	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	0.998	A
THBS2	7058	genome.wustl.edu	37	6	169626380	169626380	+	Silent	SNP	T	T	C			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr6:169626380T>C	ENST00000366787.3	-	17	2682	c.2433A>G	c.(2431-2433)gaA>gaG	p.E811E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'Flank	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	811					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AATTGTCTCGTTCATTGAAGA	0.468																																					Esophageal Squamous(91;219 1934 18562 44706)	dbGAP											0													93.0	88.0	89.0					6																	169626380		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2433A>G	6.37:g.169626380T>C			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.E811	ENST00000366787.3	37	c.2433	CCDS34574.1	6																																																																																			THBS2	-	pfam_Thrombospondin_3-like_rpt	ENSG00000186340		0.468	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	185	0.00	0	T	NM_003247		169626380	169626380	-1	no_errors	ENST00000366787	ensembl	human	known	69_37n	silent	32	40.74	22	SNP	0.895	C
UBR4	23352	genome.wustl.edu	37	1	19491831	19491831	+	Silent	SNP	T	T	C			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr1:19491831T>C	ENST00000375254.3	-	31	4251	c.4224A>G	c.(4222-4224)gtA>gtG	p.V1408V	UBR4_ENST00000375267.2_Silent_p.V1408V|UBR4_ENST00000375226.2_Silent_p.V1408V|UBR4_ENST00000375217.2_Silent_p.V1408V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1408					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATGATCTGTACAAGTTCTC	0.428																																						dbGAP											0													109.0	127.0	121.0					1																	19491831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4224A>G	1.37:g.19491831T>C			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V1408	ENST00000375254.3	37	c.4224	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	80	0.00	0	T	NM_020765		19491831	19491831	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	1.000	C
UGT1A6	54578	genome.wustl.edu	37	2	234601744	234601744	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15T-01A-11D-A10Y-09	TCGA-E2-A15T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eff74709-36af-4da4-91c1-01100ddc7735	ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25	g.chr2:234601744G>T	ENST00000305139.6	+	1	233	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	32					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GCTGCTGGTGGTCCCTCAGGA	0.498																																						dbGAP											0													68.0	68.0	68.0					2																	234601744		2203	4300	6503	-	-	-	SO:0001583	missense	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.94G>T	2.37:g.234601744G>T	ENSP00000303174:p.Val32Phe		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V32F	ENST00000305139.6	37	c.94	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	G	2.277	-0.365664	0.05069	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.60171	0.21;0.21	5.06	-3.33	0.04958	.	.	.	.	.	T	0.47838	0.1467	L	0.46157	1.445	0.09310	N	1	B;B	0.22983	0.001;0.078	B;B	0.36766	0.015;0.232	T	0.51521	-0.8695	9	0.34782	T	0.22	.	3.8786	0.09068	0.1645:0.0773:0.2952:0.463	.	32;32	B8K289;P19224	.;UD16_HUMAN	F	32	ENSP00000389637:V32F;ENSP00000303174:V32F	ENSP00000303174:V32F	V	+	1	0	UGT1A6	234266483	0.000000	0.05858	0.030000	0.17652	0.051000	0.14879	-1.408000	0.02485	-0.535000	0.06307	-2.067000	0.00394	GTC	UGT1A6	-	pfam_UDP_glucos_trans	ENSG00000167165		0.498	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	88	0.00	0	G	NM_205862		234601744	234601744	+1	no_errors	ENST00000305139	ensembl	human	known	69_37n	missense	12	53.85	14	SNP	0.000	T
