#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
AMY2B	280	genome.wustl.edu	37	1	104114362	104114362	+	Silent	SNP	T	T	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr1:104114362T>C	ENST00000361355.4	+	3	754	c.138T>C	c.(136-138)taT>taC	p.Y46Y	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	46					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGAGCGATATTTAGCTCCCA	0.413																																						dbGAP											0													130.0	128.0	128.0					1																	104114362		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.138T>C	1.37:g.104114362T>C			B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.Y46	ENST00000361355.4	37	c.138	CCDS782.1	1																																																																																			AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	459	0.00	0	T	NM_020978		104114362	104114362	+1	no_errors	ENST00000361355	ensembl	human	known	69_37n	silent	262	27.42	99	SNP	0.995	C
ARL5A	26225	genome.wustl.edu	37	2	152668924	152668924	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr2:152668924T>C	ENST00000295087.8	-	4	597	c.286A>G	c.(286-288)Aga>Gga	p.R96G	ARL5A_ENST00000428992.2_Missense_Mutation_p.R59G	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	96					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		ATCCTCTCTCTGTCTGTACTG	0.294																																						dbGAP											0													76.0	72.0	73.0					2																	152668924		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.286A>G	2.37:g.152668924T>C	ENSP00000295087:p.Arg96Gly		Q580I5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R96G	ENST00000295087.8	37	c.286	CCDS2195.1	2	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398900	0.62177	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	D;D	0.82893	-1.66;-1.66	4.86	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91945	0.7449	M	0.93197	3.39	0.58432	D	0.999999	D	0.69078	0.997	D	0.63703	0.917	D	0.93742	0.7051	10	0.87932	D	0	-19.6391	12.8215	0.57696	0.0:0.0:0.1459:0.8541	.	96	Q9Y689	ARL5A_HUMAN	G	96;59;59	ENSP00000295087:R96G;ENSP00000415950:R59G	ENSP00000295087:R96G	R	-	1	2	ARL5A	152377170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.672000	0.46850	1.813000	0.52934	0.377000	0.23210	AGA	ARL5A	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000162980		0.294	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5A	HGNC	protein_coding	OTTHUMT00000254837.1	98	0.00	0	T			152668924	152668924	-1	no_errors	ENST00000295087	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	1.000	C
ATP8B5P	158381	genome.wustl.edu	37	9	35450217	35450217	+	RNA	SNP	C	C	T	rs559817563		TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr9:35450217C>T	ENST00000430846.1	+	0	3067									ATPase, class I, type 8B, member 5, pseudogene																		GGTTTGAATGCGGTGTAGAAA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19878	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450217C>T				RNA	SNP	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-	ENSG00000179766		0.373	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1	279	0.00	0	C	NR_003581.1		35450217	35450217	+1	no_errors	ENST00000430846	ensembl	human	known	69_37n	rna	220	19.71	54	SNP	1.000	T
CAPN10	11132	genome.wustl.edu	37	2	241534504	241534504	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr2:241534504G>C	ENST00000391984.2	+	7	1257	c.1061G>C	c.(1060-1062)gGc>gCc	p.G354A	CAPN10_ENST00000354082.4_Missense_Mutation_p.G354A|CAPN10_ENST00000391982.2_Missense_Mutation_p.G354A|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.G354A	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	354	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCAGCAGGAGGCTGCCGGAAC	0.617																																						dbGAP											0													58.0	65.0	63.0					2																	241534504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1061G>C	2.37:g.241534504G>C	ENSP00000375844:p.Gly354Ala		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	p.G354A	ENST00000391984.2	37	c.1061	CCDS42838.1	2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882714	0.91740	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082	D;D;D;D	0.99405	-2.17;-5.84;-2.17;-5.84	4.63	4.63	0.57726	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.96916	3.905	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.97279	0.9916	10	0.87932	D	0	.	14.9687	0.71217	0.0:0.0:1.0:0.0	.	354;354;354;354	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	A	354	ENSP00000375844:G354A;ENSP00000375842:G354A;ENSP00000384422:G354A;ENSP00000270362:G354A	ENSP00000270362:G354A	G	+	2	0	CAPN10	241183177	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.741000	0.91583	2.110000	0.64415	0.655000	0.94253	GGC	CAPN10	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease	ENSG00000142330		0.617	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	65	0.00	0	G	NM_023083		241534504	241534504	+1	no_errors	ENST00000391984	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	C
CDHR3	222256	genome.wustl.edu	37	7	105655584	105655584	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr7:105655584delC	ENST00000317716.9	+	10	1332	c.1252delC	c.(1252-1254)ccafs	p.P418fs	CDHR3_ENST00000542731.1_Frame_Shift_Del_p.P418fs|CDHR3_ENST00000478080.1_Frame_Shift_Del_p.P330fs|CDHR3_ENST00000343407.5_Frame_Shift_Del_p.P135fs|CDHR3_ENST00000470188.1_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTACGAAAATCCAAGTAACCT	0.373																																						dbGAP											0													60.0	56.0	57.0					7																	105655584		1841	4090	5931	-	-	-	SO:0001589	frameshift_variant	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1252delC	7.37:g.105655584delC	ENSP00000325954:p.Pro418fs		Q8TCI7	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P418fs	ENST00000317716.9	37	c.1252	CCDS47684.1	7																																																																																			CDHR3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000128536		0.373	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	133	0.00	0	C	NM_152750		105655584	105655584	+1	no_errors	ENST00000317716	ensembl	human	known	69_37n	frame_shift_del	66	20.24	17	DEL	0.389	-
CDK2	1017	genome.wustl.edu	37	12	56361872	56361872	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr12:56361872delG	ENST00000266970.4	+	3	474	c.234delG	c.(232-234)ctgfs	p.L78fs	PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000550447.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000539511.1_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000449260.2_5'Flank|CDK2_ENST00000553376.1_Frame_Shift_Del_p.L78fs|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000550464.1_5'Flank|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000440311.2_Frame_Shift_Del_p.L52fs|CDK2_ENST00000354056.4_Frame_Shift_Del_p.L78fs	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	AACTCTACCTGGTTTTTGAAT	0.443																																						dbGAP											0													130.0	126.0	127.0					12																	56361872		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.234delG	12.37:g.56361872delG	ENSP00000266970:p.Leu78fs		A8K7C6|O75100	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V79fs	ENST00000266970.4	37	c.234	CCDS8898.1	12																																																																																			CDK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000123374		0.443	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2	HGNC	protein_coding	OTTHUMT00000409650.1	349	0.57	2	G			56361872	56361872	+1	no_errors	ENST00000266970	ensembl	human	known	69_37n	frame_shift_del	177	20.18	45	DEL	1.000	-
CLEC18A	348174	genome.wustl.edu	37	16	69985339	69985339	+	Missense_Mutation	SNP	G	G	A	rs201275802	byFrequency	TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr16:69985339G>A	ENST00000288040.6	+	1	257	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	CLEC18A_ENST00000393701.2_Missense_Mutation_p.A24T|CLEC18A_ENST00000568461.1_Missense_Mutation_p.A24T|CLEC18A_ENST00000449317.2_Missense_Mutation_p.A24T	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	24						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						CCTTGGCACCGCCTGGGCAGA	0.682																																						dbGAP											0													1.0	1.0	1.0					16																	69985339		541	993	1534	-	-	-	SO:0001583	missense	0			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"""C-type lectin domain containing"""	30388	protein-coding gene	gene with protein product	"""mannose receptor-like"""					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.70G>A	16.37:g.69985339G>A	ENSP00000288040:p.Ala24Thr		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.A24T	ENST00000288040.6	37	c.70	CCDS10886.1	16	.	.	.	.	.	.	.	.	.	.	.	0.064	-1.217164	0.01542	.	.	ENSG00000157322	ENST00000393701;ENST00000539957;ENST00000545150;ENST00000449317;ENST00000288040	T;T;T	0.09817	2.94;2.94;2.94	2.58	-5.17	0.02849	.	1.101160	0.06914	N	0.808160	T	0.03827	0.0108	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.43228	-0.9404	9	.	.	.	.	5.4194	0.16392	0.5323:0.0:0.3315:0.1362	.	24;24;24	B4DPF2;A5D8T8;F8W692	.;CL18A_HUMAN;.	T	24	ENSP00000377304:A24T;ENSP00000413990:A24T;ENSP00000288040:A24T	.	A	+	1	0	CLEC18A	68542840	0.001000	0.12720	0.026000	0.17262	0.178000	0.23041	-0.387000	0.07361	-2.105000	0.00842	-2.536000	0.00181	GCC	CLEC18A	-	NULL	ENSG00000157322		0.682	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18A	HGNC	protein_coding	OTTHUMT00000268955.2	31	0.00	0	G	NM_182619		69985339	69985339	+1	no_errors	ENST00000449317	ensembl	human	known	69_37n	missense	7	22.22	2	SNP	0.022	A
DDX21	9188	genome.wustl.edu	37	10	70737298	70737298	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr10:70737298G>A	ENST00000354185.4	+	12	1854	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	586					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTGGATTCCGTGCCTCCCAC	0.443																																						dbGAP											0													149.0	148.0	148.0					10																	70737298		2203	4300	6503	-	-	-	SO:0001583	missense	0			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1756G>A	10.37:g.70737298G>A	ENSP00000346120:p.Val586Met		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V586M	ENST00000354185.4	37	c.1756	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995936	0.74703	.	.	ENSG00000165732	ENST00000354185	T	0.21932	1.98	5.61	4.69	0.59074	.	0.228569	0.44097	D	0.000498	T	0.42653	0.1212	M	0.90019	3.08	0.54753	D	0.999988	D	0.67145	0.996	P	0.50617	0.646	T	0.54603	-0.8269	10	0.72032	D	0.01	-11.6248	14.2784	0.66196	0.0712:0.0:0.9288:0.0	.	586	Q9NR30	DDX21_HUMAN	M	586	ENSP00000346120:V586M	ENSP00000346120:V586M	V	+	1	0	DDX21	70407304	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.700000	0.54786	2.793000	0.96121	0.655000	0.94253	GTG	DDX21	-	NULL	ENSG00000165732		0.443	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	453	0.00	0	G	NM_004728		70737298	70737298	+1	no_errors	ENST00000354185	ensembl	human	known	69_37n	missense	349	23.91	110	SNP	1.000	A
DIO1	1733	genome.wustl.edu	37	1	54370427	54370427	+	Silent	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr1:54370427C>T	ENST00000361921.3	+	2	450	c.426C>T	c.(424-426)gaC>gaT	p.D142D	DIO1_ENST00000388876.3_Intron|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Silent_p.D78D|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000524406.1_Silent_p.D13D|DIO1_ENST00000322679.6_Silent_p.D142D	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	142					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTATTGAAGACTTTAGTTCCA	0.393																																						dbGAP											0													230.0	205.0	213.0					1																	54370427		1896	4123	6019	-	-	-	SO:0001819	synonymous_variant	0				CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.426C>T	1.37:g.54370427C>T			Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	pfam_Iodothyronine_deiodinase	p.D13	ENST00000361921.3	37	c.39	CCDS41339.1	1																																																																																			DIO1	-	pfam_Iodothyronine_deiodinase	ENSG00000211452		0.393	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO1	HGNC	protein_coding	OTTHUMT00000023247.3	398	0.00	0	C			54370427	54370427	+1	no_errors	ENST00000524406	ensembl	human	putative	69_37n	silent	160	31.91	75	SNP	1.000	T
ERBB2IP	55914	genome.wustl.edu	37	5	65346627	65346628	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr5:65346627_65346628delAG	ENST00000284037.5	+	20	2309_2310	c.1920_1921delAG	c.(1918-1923)acagatfs	p.D641fs	ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.D637fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.D641fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	641					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAAGGAAACAGATTCTTTATC	0.312																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1920_1921delAG	5.37:g.65346627_65346628delAG	ENSP00000284037:p.Asp641fs		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D641fs	ENST00000284037.5	37	c.1920_1921	CCDS58953.1	5																																																																																			ERBB2IP	-	NULL	ENSG00000112851		0.312	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	259	0.00	0	AG	NM_018695		65346627	65346628	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	frame_shift_del	195	15.95	37	DEL	0.607:1.000	-
ERCC6L2	375748	genome.wustl.edu	37	9	98774568	98774568	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr9:98774568C>T	ENST00000407474.3	+	4	1192	c.679C>T	c.(679-681)Cat>Tat	p.H227Y				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1257	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ATTTGCTAAACATATAACCAA	0.313																																						dbGAP											0													49.0	49.0	49.0					9																	98774568		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.679C>T	9.37:g.98774568C>T	ENSP00000384365:p.His227Tyr		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	NULL	p.H227Y	ENST00000407474.3	37	c.679		9	.	.	.	.	.	.	.	.	.	.	C	2.293	-0.361949	0.05103	.	.	ENSG00000182150	ENST00000407474	.	.	.	4.59	0.483	0.16820	.	1.043410	0.07555	N	0.916049	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.24920	0.114	B	0.23574	0.047	T	0.27938	-1.0059	8	0.23891	T	0.37	.	2.7666	0.05322	0.128:0.5334:0.1242:0.2144	.	227	A4D997	CI102_HUMAN	Y	227	.	ENSP00000384365:H227Y	H	+	1	0	C9orf102	97814389	0.061000	0.20836	0.000000	0.03702	0.946000	0.59487	0.984000	0.29565	0.000000	0.14550	0.650000	0.86243	CAT	ERCC6L2	-	NULL	ENSG00000182150		0.313	ERCC6L2-201	KNOWN	basic	protein_coding	ERCC6L2	HGNC	protein_coding		117	0.00	0	C	NM_001010895		98774568	98774568	+1	no_errors	ENST00000407474	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	0.001	T
FBLN2	2199	genome.wustl.edu	37	3	13612490	13612491	+	Frame_Shift_Ins	INS	-	-	G	rs368996190		TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr3:13612490_13612491insG	ENST00000295760.7	+	2	704_705	c.635_636insG	c.(634-639)ctggggfs	p.LG212fs	FBLN2_ENST00000492059.1_Frame_Shift_Ins_p.LG212fs|FBLN2_ENST00000404922.3_Frame_Shift_Ins_p.LG212fs|FBLN2_ENST00000535798.1_Frame_Shift_Ins_p.LG238fs	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	212	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCAACAGCCCTGGGGGGTGAGG	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.641dupG	3.37:g.13612496_13612496dupG	ENSP00000295760:p.Leu212fs		B7Z9C5|Q8IUI0|Q8IUI1	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.E215fs	ENST00000295760.7	37	c.635_636	CCDS46762.1	3																																																																																			FBLN2	-	NULL	ENSG00000163520		0.673	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	20	0.00	0	-	NM_001004019		13612490	13612491	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.000	G
GALNTL6	442117	genome.wustl.edu	37	4	173961206	173961206	+	Silent	SNP	T	T	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr4:173961206T>A	ENST00000506823.1	+	13	2418	c.1761T>A	c.(1759-1761)atT>atA	p.I587I	GALNTL6_ENST00000508122.1_Silent_p.I570I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	587					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTGAACACATTAATATGACTG	0.393																																						dbGAP											0													78.0	76.0	77.0					4																	173961206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1761T>A	4.37:g.173961206T>A			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I587	ENST00000506823.1	37	c.1761	CCDS34104.1	4																																																																																			GALNTL6	-	superfamily_Ricin_B_lectin	ENSG00000174473		0.393	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	394	0.00	0	T	NM_001034845		173961206	173961206	+1	no_errors	ENST00000506823	ensembl	human	known	69_37n	silent	368	19.47	89	SNP	0.999	A
GATA3	2625	genome.wustl.edu	37	10	8115978	8115979	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr10:8115978_8115979insT	ENST00000346208.3	+	6	1779_1780	c.1324_1325insT	c.(1324-1326)atgfs	p.M442fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.M443fs			P23771	GATA3_HUMAN	GATA binding protein 3	442					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGTCACCGCCATGGGTTAGAGC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1325dupT	10.37:g.8115979_8115979dupT	ENSP00000341619:p.Met442fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.M443fs	ENST00000346208.3	37	c.1327_1328	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	158	0.00	0	-	NM_001002295		8115978	8115979	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	96	30.94	43	INS	1.000:1.000	T
GPX5	2880	genome.wustl.edu	37	6	28501767	28501767	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr6:28501767G>T	ENST00000412168.2	+	5	578	c.489G>T	c.(487-489)ttG>ttT	p.L163F	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	163					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CTGAGATTTTGGGCACATTCA	0.458																																						dbGAP											0													182.0	181.0	181.0					6																	28501767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.489G>T	6.37:g.28501767G>T	ENSP00000392398:p.Leu163Phe		A1A4Y0	Missense_Mutation	SNP	pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	p.L163F	ENST00000412168.2	37	c.489	CCDS4652.1	6	.	.	.	.	.	.	.	.	.	.	G	7.376	0.627724	0.14257	.	.	ENSG00000224586	ENST00000412168	T	0.04015	3.73	4.42	1.69	0.24217	Thioredoxin-like fold (2);	0.338416	0.29956	N	0.010780	T	0.00998	0.0033	N	0.25957	0.775	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.44952	-0.9294	10	0.19590	T	0.45	-5.7166	3.4734	0.07575	0.2849:0.0:0.5375:0.1775	.	163	O75715	GPX5_HUMAN	F	163	ENSP00000392398:L163F	ENSP00000392398:L163F	L	+	3	2	GPX5	28609746	0.955000	0.32602	0.036000	0.18154	0.688000	0.40055	0.367000	0.20382	0.379000	0.24794	0.655000	0.94253	TTG	GPX5	-	superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase	ENSG00000224586		0.458	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	HGNC	protein_coding	OTTHUMT00000043672.2	815	0.12	1	G			28501767	28501767	+1	no_errors	ENST00000412168	ensembl	human	known	69_37n	missense	623	21.24	168	SNP	0.701	T
HCFC1	3054	genome.wustl.edu	37	X	153220767	153220767	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chrX:153220767G>T	ENST00000310441.7	-	17	4049	c.3083C>A	c.(3082-3084)aCg>aAg	p.T1028K	HCFC1_ENST00000354233.3_Missense_Mutation_p.T959K|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1028K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1028					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGTGGCCGTGTTGGTGGT	0.612																																						dbGAP											0													84.0	89.0	87.0					X																	153220767		2172	4242	6414	-	-	-	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3083C>A	X.37:g.153220767G>T	ENSP00000309555:p.Thr1028Lys		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.T1028K	ENST00000310441.7	37	c.3083	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559236	0.86335	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04275	3.66;3.79;3.72	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.58810	1.83	0.54753	D	0.999983	D	0.63880	0.993	D	0.74023	0.982	T	0.00143	-1.1995	10	0.59425	D	0.04	.	16.8265	0.85933	0.0:0.0:1.0:0.0	.	1028	P51610	HCFC1_HUMAN	K	1028;1028;959	ENSP00000309555:T1028K;ENSP00000359001:T1028K;ENSP00000346174:T959K	ENSP00000309555:T1028K	T	-	2	0	HCFC1	152873961	1.000000	0.71417	0.918000	0.36340	0.924000	0.55760	8.961000	0.93122	2.233000	0.73108	0.529000	0.55759	ACG	HCFC1	-	NULL	ENSG00000172534		0.612	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	58	0.00	0	G	NM_005334		153220767	153220767	-1	no_errors	ENST00000310441	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.999	T
HOMER2	9455	genome.wustl.edu	37	15	83523512	83523512	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr15:83523512G>A	ENST00000304231.8	-	6	760	c.568C>T	c.(568-570)Ctt>Ttt	p.L190F	HOMER2_ENST00000426485.1_Intron|HOMER2_ENST00000450735.2_Missense_Mutation_p.L179F|HOMER2_ENST00000399166.2_Intron	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	190					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CTCTCCCGAAGGGTCTGCAGC	0.637																																						dbGAP											0													59.0	63.0	61.0					15																	83523512		2164	4262	6426	-	-	-	SO:0001583	missense	0			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.568C>T	15.37:g.83523512G>A	ENSP00000305632:p.Leu190Phe		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.L190F	ENST00000304231.8	37	c.568	CCDS45334.1	15	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777905	0.90195	.	.	ENSG00000103942	ENST00000304231;ENST00000450735	T;T	0.78924	1.22;-1.22	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	D	0.89181	0.6642	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69142	0.962;0.938	D	0.90508	0.4479	10	0.72032	D	0.01	.	18.3032	0.90171	0.0:0.0:1.0:0.0	.	179;190	Q9NSB8-2;Q9NSB8	.;HOME2_HUMAN	F	190;179	ENSP00000305632:L190F;ENSP00000407634:L179F	ENSP00000305632:L190F	L	-	1	0	HOMER2	81320566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.212000	0.58514	2.583000	0.87209	0.655000	0.94253	CTT	HOMER2	-	NULL	ENSG00000103942		0.637	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOMER2	HGNC	protein_coding	OTTHUMT00000418689.1	83	0.00	0	G			83523512	83523512	-1	no_errors	ENST00000304231	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	A
IARS	3376	genome.wustl.edu	37	9	95007281	95007281	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr9:95007281G>C	ENST00000375643.3	-	27	3130	c.2864C>G	c.(2863-2865)aCa>aGa	p.T955R	IARS_ENST00000447699.2_Missense_Mutation_p.T845R|IARS_ENST00000443024.2_Missense_Mutation_p.T955R|IARS_ENST00000375627.1_Missense_Mutation_p.T8R|IARS_ENST00000375629.3_Missense_Mutation_p.T8R|IARS_ENST00000474340.1_5'Flank	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	955					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTCCCACCTGTGGCCTGATC	0.453																																						dbGAP											0													174.0	144.0	154.0					9																	95007281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2864C>G	9.37:g.95007281G>C	ENSP00000364794:p.Thr955Arg		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.T955R	ENST00000375643.3	37	c.2864	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602013	0.28534	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627;ENST00000449893	T;T;T	0.11385	2.79;2.79;2.78	5.82	4.89	0.63831	.	0.391329	0.31507	N	0.007536	T	0.09202	0.0227	L	0.32530	0.975	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.13308	-1.0514	10	0.48119	T	0.1	-1.1986	10.2806	0.43537	0.0709:0.0:0.7925:0.1366	.	465;955;800	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	R	955;8;955;845;955;8;187	ENSP00000364794:T955R;ENSP00000406448:T955R;ENSP00000415020:T845R	ENSP00000364778:T8R	T	-	2	0	IARS	94047102	0.013000	0.17824	0.031000	0.17742	0.996000	0.88848	1.804000	0.38873	2.752000	0.94435	0.655000	0.94253	ACA	IARS	-	NULL	ENSG00000196305		0.453	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	162	0.00	0	G	NM_002161		95007281	95007281	-1	no_errors	ENST00000375643	ensembl	human	known	69_37n	missense	112	18.25	25	SNP	0.070	C
ITGA7	3679	genome.wustl.edu	37	12	56091275	56091275	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr12:56091275C>T	ENST00000555728.1	-	11	1625	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	ITGA7_ENST00000452168.2_Missense_Mutation_p.D396N|ITGA7_ENST00000347027.6_Missense_Mutation_p.D489N|ITGA7_ENST00000257879.6_Missense_Mutation_p.D489N|ITGA7_ENST00000394230.2_Missense_Mutation_p.D493N|ITGA7_ENST00000257880.7_Missense_Mutation_p.D533N|ITGA7_ENST00000553804.1_Missense_Mutation_p.D493N|ITGA7_ENST00000394229.2_Missense_Mutation_p.D489N			Q13683	ITA7_HUMAN	integrin, alpha 7	533					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCTCCAGGTCGATGCTTCGT	0.602																																						dbGAP											0													61.0	57.0	58.0					12																	56091275		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1597G>A	12.37:g.56091275C>T	ENSP00000452387:p.Asp533Asn		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D533N	ENST00000555728.1	37	c.1597		12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988089	0.74589	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	4.46	4.46	0.54185	Integrin alpha-2 (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.72118	2.19	0.58432	D	0.999998	D;P;D;D	0.89917	0.987;0.856;1.0;0.999	P;P;D;D	0.70716	0.847;0.538;0.97;0.943	T	0.57963	-0.7720	10	0.40728	T	0.16	.	15.0058	0.71510	0.0:1.0:0.0:0.0	.	396;533;493;552	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	N	493;489;489;396;533;493;489;533;533	ENSP00000452120:D493N;ENSP00000257879:D489N;ENSP00000343009:D489N;ENSP00000393844:D396N;ENSP00000257880:D533N;ENSP00000377777:D493N;ENSP00000377776:D489N;ENSP00000452387:D533N	ENSP00000257879:D489N	D	-	1	0	ITGA7	54377542	0.992000	0.36948	0.184000	0.23157	0.164000	0.22412	3.009000	0.49552	2.214000	0.71695	0.462000	0.41574	GAC	ITGA7	-	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p	ENSG00000135424		0.602	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	178	0.00	0	C	NM_002206		56091275	56091275	-1	no_errors	ENST00000555728	ensembl	human	known	69_37n	missense	74	25.25	25	SNP	0.998	T
ITGB5	3693	genome.wustl.edu	37	3	124487900	124487900	+	Silent	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr3:124487900G>A	ENST00000296181.4	-	12	2273	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	659					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCTGCATAGGCTGTGGCAGG	0.552																																						dbGAP											0													130.0	115.0	120.0					3																	124487900		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1977C>T	3.37:g.124487900G>A			B0LPF8|B2RD70	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,smart_Integrin_bsu_N,prints_Integrin_bsu	p.A349V	ENST00000296181.4	37	c.1046	CCDS3030.1	3	.	.	.	.	.	.	.	.	.	.	G	7.591	0.670782	0.14776	.	.	ENSG00000082781	ENST00000481591	.	.	.	5.12	2.23	0.28157	.	.	.	.	.	T	0.28732	0.0712	.	.	.	0.30417	N	0.778462	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	.	2.7822	0.05364	0.0898:0.243:0.4107:0.2565	.	.	.	.	V	349	.	.	A	-	2	0	ITGB5	125970590	0.853000	0.29707	0.327000	0.25402	0.865000	0.49528	0.596000	0.24044	1.373000	0.46208	0.655000	0.94253	GCC	ITGB5	-	pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail	ENSG00000082781		0.552	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	176	0.00	0	G	NM_002213		124487900	124487900	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000481591	ensembl	human	putative	69_37n	missense	39	52.38	44	SNP	0.122	A
KIF4A	24137	genome.wustl.edu	37	X	69550016	69550016	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chrX:69550016G>C	ENST00000374403.3	+	9	987	c.905G>C	c.(904-906)gGa>gCa	p.G302A	KIF4A_ENST00000374388.3_Missense_Mutation_p.G302A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	302	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GATTCTCTAGGAGGTAATAGC	0.383																																						dbGAP											0													95.0	92.0	93.0					X																	69550016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.905G>C	X.37:g.69550016G>C	ENSP00000363524:p.Gly302Ala		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G302A	ENST00000374403.3	37	c.905	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936439	0.73442	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.76316	-1.01;-1.01	5.06	4.2	0.49525	Kinesin, motor domain (4);	0.000000	0.56097	D	0.000037	D	0.90181	0.6931	H	0.94503	3.545	0.80722	D	1	P;D	0.63880	0.683;0.993	P;D	0.70227	0.838;0.968	D	0.91649	0.5333	10	0.72032	D	0.01	.	12.0619	0.53566	0.086:0.0:0.914:0.0	.	302;302	O95239;O95239-2	KIF4A_HUMAN;.	A	302	ENSP00000363509:G302A;ENSP00000363524:G302A	ENSP00000363509:G302A	G	+	2	0	KIF4A	69466741	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.379000	0.97198	1.041000	0.40125	0.436000	0.28706	GGA	KIF4A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000090889		0.383	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	368	0.00	0	G	NM_012310		69550016	69550016	+1	no_errors	ENST00000374403	ensembl	human	known	69_37n	missense	314	20.10	79	SNP	1.000	C
KRT25	147183	genome.wustl.edu	37	17	38910684	38910684	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr17:38910684G>T	ENST00000312150.4	-	2	526	c.466C>A	c.(466-468)Ctg>Atg	p.L156M		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCGATCTGCAGAACAGCATTA	0.393																																						dbGAP											0													136.0	130.0	132.0					17																	38910684		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.466C>A	17.37:g.38910684G>T	ENSP00000310573:p.Leu156Met			Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.L156M	ENST00000312150.4	37	c.466	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250241	0.59212	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.90504	-2.68	5.91	4.94	0.65067	Filament (1);	0.402704	0.21343	N	0.076099	D	0.95739	0.8614	M	0.93678	3.445	0.09310	N	0.999994	D	0.71674	0.998	D	0.74348	0.983	D	0.90070	0.4162	10	0.87932	D	0	.	7.8338	0.29358	0.136:0.1369:0.7272:0.0	.	156	Q7Z3Z0	K1C25_HUMAN	M	156	ENSP00000310573:L156M	ENSP00000310573:L156M	L	-	1	2	KRT25	36164210	0.880000	0.30214	0.934000	0.37439	0.928000	0.56348	1.361000	0.34136	1.500000	0.48636	0.655000	0.94253	CTG	KRT25	-	pfam_F	ENSG00000204897		0.393	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	224	0.00	0	G	NM_181534		38910684	38910684	-1	no_errors	ENST00000312150	ensembl	human	known	69_37n	missense	253	13.85	41	SNP	0.205	T
LETM1	3954	genome.wustl.edu	37	4	1821128	1821130	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr4:1821128_1821130delCTT	ENST00000302787.2	-	11	1974_1976	c.1678_1680delAAG	c.(1678-1680)aagdel	p.K560del		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	560					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGGTGAGTGACTTCTTCTGCTCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1678_1680delAAG	4.37:g.1821131_1821133delCTT	ENSP00000305653:p.Lys560del		B4DED2|Q9UF65	In_Frame_Del	DEL	pfam_LETM1,pfscan_EF_HAND_2	p.K560in_frame_del	ENST00000302787.2	37	c.1680_1678	CCDS3355.1	4																																																																																			LETM1	-	NULL	ENSG00000168924		0.532	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	163	0.00	0	CTT			1821128	1821130	-1	no_errors	ENST00000302787	ensembl	human	known	69_37n	in_frame_del	51	18.75	12	DEL	0.653:0.654:0.678	-
MDM1	56890	genome.wustl.edu	37	12	68720671	68720671	+	Silent	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr12:68720671G>A	ENST00000303145.7	-	3	350	c.264C>T	c.(262-264)gcC>gcT	p.A88A	MDM1_ENST00000411698.2_Silent_p.A88A|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000430606.2_Silent_p.A88A|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	88					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GTGTTTCCGGGGCTTCTGGTT	0.448																																						dbGAP											0													147.0	145.0	145.0					12																	68720671		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.264C>T	12.37:g.68720671G>A			B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	NULL	p.A88	ENST00000303145.7	37	c.264	CCDS8983.1	12																																																																																			MDM1	-	NULL	ENSG00000111554		0.448	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	291	0.00	0	G	NM_020128		68720671	68720671	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	silent	193	17.87	42	SNP	0.000	A
MFSD8	256471	genome.wustl.edu	37	4	128842873	128842873	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr4:128842873G>A	ENST00000296468.3	-	12	1283	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	MFSD8_ENST00000513559.1_Missense_Mutation_p.L341F|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	386					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GACTTCCAAAGACCAATAATA	0.398																																						dbGAP											0													84.0	89.0	87.0					4																	128842873		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1156C>T	4.37:g.128842873G>A	ENSP00000296468:p.Leu386Phe		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L386F	ENST00000296468.3	37	c.1156	CCDS3736.1	4	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263311	0.23051	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	D;D	0.85629	-2.01;-1.93	4.95	2.99	0.34606	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.731768	0.12614	N	0.453646	T	0.74313	0.3700	L	0.36672	1.1	0.50813	D	0.999895	B	0.02656	0.0	B	0.04013	0.001	T	0.64141	-0.6477	10	0.30854	T	0.27	-6.2788	2.7555	0.05291	0.2709:0.0:0.4734:0.2558	.	386	Q8NHS3	MFSD8_HUMAN	F	386;341	ENSP00000296468:L386F;ENSP00000425000:L341F	ENSP00000296468:L386F	L	-	1	0	MFSD8	129062323	0.996000	0.38824	0.973000	0.42090	0.873000	0.50193	1.821000	0.39041	0.593000	0.29745	-0.310000	0.09108	CTT	MFSD8	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.398	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	97	0.00	0	G	NM_152778		128842873	128842873	-1	no_errors	ENST00000296468	ensembl	human	known	69_37n	missense	100	25.37	34	SNP	0.722	A
MVP	9961	genome.wustl.edu	37	16	29848117	29848117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr16:29848117G>A	ENST00000357402.5	+	7	885	c.747G>A	c.(745-747)tgG>tgA	p.W249*	MVP_ENST00000452209.2_Missense_Mutation_p.A64T|MVP_ENST00000395353.1_Nonsense_Mutation_p.W249*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	249					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGGAGGAGTGGCTGGTAACAG	0.642																																						dbGAP											0													50.0	48.0	49.0					16																	29848117		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.747G>A	16.37:g.29848117G>A	ENSP00000349977:p.Trp249*		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Nonsense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.W249*	ENST00000357402.5	37	c.747	CCDS10656.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.142965|6.142965	0.97320|0.97320	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000452209|ENST00000357402;ENST00000395353	T|.	0.65178|.	-0.14|.	5.47|5.47	4.51|4.51	0.55191|0.55191	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.16385|.	0.0394|.	.|.	.|.	.|.	0.27054|0.27054	N|N	0.963703|0.963703	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18618|.	-1.0331|.	6|.	0.87932|0.02654	D|T	0|1	-18.0408|-18.0408	12.5533|12.5533	0.56240|0.56240	0.0817:0.0:0.9183:0.0|0.0817:0.0:0.9183:0.0	.|.	.|.	.|.	.|.	T|X	64|249	ENSP00000387916:A64T|.	ENSP00000387916:A64T|ENSP00000349977:W249X	A|W	+|+	1|3	0|0	MVP|MVP	29755618|29755618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	7.661000|7.661000	0.83786|0.83786	1.435000|1.435000	0.47434|0.47434	0.462000|0.462000	0.41574|0.41574	GCT|TGG	MVP	-	pfam_Vault_N	ENSG00000013364		0.642	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	40	0.00	0	G	NM_005115		29848117	29848117	+1	no_errors	ENST00000357402	ensembl	human	known	69_37n	nonsense	40	18.37	9	SNP	1.000	A
NLRC4	58484	genome.wustl.edu	37	2	32476071	32476071	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr2:32476071G>A	ENST00000404025.2	-	5	1350	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R288W|NLRC4_ENST00000402280.1_Missense_Mutation_p.R288W			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	288	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCAAACTGCCGTATGTGCCTC	0.547																																						dbGAP											0													121.0	101.0	108.0					2																	32476071		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.862C>T	2.37:g.32476071G>A	ENSP00000385090:p.Arg288Trp		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.R288W	ENST00000404025.2	37	c.862	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.321991	0.23994	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.79749	-1.3;-1.3;-1.3	3.26	-3.35	0.04928	.	0.000000	0.50627	D	0.000112	D	0.83991	0.5374	L	0.59436	1.845	0.35776	D	0.821296	D	0.89917	1.0	D	0.73380	0.98	D	0.84484	0.0607	9	0.56958	D	0.05	-14.3726	12.079	0.53659	0.0:0.0:0.5844:0.4156	.	288	Q9NPP4	NLRC4_HUMAN	W	288	ENSP00000354159:R288W;ENSP00000385428:R288W;ENSP00000385090:R288W	ENSP00000354159:R288W	R	-	1	2	NLRC4	32329575	0.815000	0.29118	0.891000	0.34965	0.032000	0.12392	0.030000	0.13688	-0.745000	0.04772	-0.607000	0.04081	CGG	NLRC4	-	NULL	ENSG00000091106		0.547	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	304	0.00	0	G	NM_021209		32476071	32476071	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	missense	179	27.24	67	SNP	0.614	A
OBSCN	84033	genome.wustl.edu	37	1	228479785	228479785	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr1:228479785G>T	ENST00000422127.1	+	39	10570	c.10526G>T	c.(10525-10527)gGc>gTc	p.G3509V	OBSCN_ENST00000366707.4_Missense_Mutation_p.G628V|OBSCN_ENST00000570156.2_Missense_Mutation_p.G3938V|OBSCN_ENST00000366709.4_Missense_Mutation_p.G628V|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3509V|OBSCN_ENST00000359599.6_Missense_Mutation_p.G2356V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3509	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGATCTGTGGCCTGGCCATG	0.622																																						dbGAP											0													107.0	115.0	113.0					1																	228479785		2109	4216	6325	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10526G>T	1.37:g.228479785G>T	ENSP00000409493:p.Gly3509Val		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.G3509V	ENST00000422127.1	37	c.10526	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407374	0.42715	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	5.1	-0.163	0.13363	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818635	0.11278	N	0.580720	T	0.20861	0.0502	M	0.85945	2.785	0.20403	N	0.99991	D;D	0.76494	0.999;0.995	D;D	0.72625	0.978;0.971	T	0.09930	-1.0652	10	0.33141	T	0.24	.	5.4425	0.16517	0.512:0.1485:0.3394:0.0	.	3509;3509	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3509;3509;628;628;2356	ENSP00000284548:G3509V;ENSP00000409493:G3509V;ENSP00000355668:G628V;ENSP00000355670:G628V;ENSP00000352613:G2356V	ENSP00000284548:G3509V	G	+	2	0	OBSCN	226546408	0.000000	0.05858	0.680000	0.29994	0.111000	0.19643	0.896000	0.28377	0.048000	0.15891	0.511000	0.50034	GGC	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		303	0.00	0	G	NM_052843		228479785	228479785	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	112	31.29	51	SNP	0.015	T
OR5K3	403277	genome.wustl.edu	37	3	98110241	98110241	+	Silent	SNP	C	C	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr3:98110241C>A	ENST00000383695.1	+	1	732	c.732C>A	c.(730-732)ctC>ctA	p.L244L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTCACTTTCTCTCTGTGTCAA	0.358																																						dbGAP											0													173.0	167.0	169.0					3																	98110241		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.732C>A	3.37:g.98110241C>A				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L244	ENST00000383695.1	37	c.732	CCDS33803.1	3																																																																																			OR5K3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000206536		0.358	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	HGNC	protein_coding	OTTHUMT00000359110.1	752	0.13	1	C			98110241	98110241	+1	no_errors	ENST00000383695	ensembl	human	known	69_37n	silent	588	23.74	183	SNP	0.010	A
PCDHA2	56146	genome.wustl.edu	37	5	140175999	140175999	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr5:140175999G>A	ENST00000526136.1	+	1	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A484T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A484T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCGGACGCGCAGGAGAA	0.657																																						dbGAP											0													70.0	73.0	72.0					5																	140175999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1450G>A	5.37:g.140175999G>A	ENSP00000431748:p.Ala484Thr		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A484T	ENST00000526136.1	37	c.1450	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	7.021	0.558774	0.13436	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.51325	0.71;0.71;0.71	3.94	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.000000	0.39475	U	0.001346	T	0.30262	0.0759	N	0.25201	0.72	0.09310	N	0.999999	P;B;B	0.35656	0.514;0.143;0.112	B;B;B	0.36885	0.061;0.235;0.039	T	0.16958	-1.0385	10	0.52906	T	0.07	.	4.9227	0.13878	0.1788:0.0:0.6466:0.1745	.	484;484;484	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	484	ENSP00000430584:A484T;ENSP00000367372:A484T;ENSP00000431748:A484T	ENSP00000367372:A484T	A	+	1	0	PCDHA2	140156183	0.000000	0.05858	0.998000	0.56505	0.306000	0.27790	-0.061000	0.11693	1.915000	0.55452	0.644000	0.83932	GCG	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204969		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	74	0.00	0	G	NM_018905		140175999	140175999	+1	no_errors	ENST00000526136	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.280	A
PLCE1	51196	genome.wustl.edu	37	10	96058292	96058293	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr10:96058292_96058293insT	ENST00000371380.3	+	23	5559_5560	c.5324_5325insT	c.(5323-5328)aaactgfs	p.KL1775fs	PLCE1_ENST00000260766.3_Frame_Shift_Ins_p.KL1775fs|PLCE1_ENST00000371375.1_Frame_Shift_Ins_p.KL1467fs|PLCE1_ENST00000371385.3_Frame_Shift_Ins_p.KL1467fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1775	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TATTCTCAGAAACTGACCCAGC	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	Exception_encountered	10.37:g.96058292_96058293insT	ENSP00000360431:p.Lys1775fs		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Ins	INS	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.K1775fs	ENST00000371380.3	37	c.5324_5325	CCDS41552.1	10																																																																																			PLCE1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000138193		0.530	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	232	0.00	0	-	NM_016341		96058292	96058293	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	frame_shift_ins	159	39.08	102	INS	1.000:1.000	T
PPM1E	22843	genome.wustl.edu	37	17	57049625	57049625	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr17:57049625C>G	ENST00000308249.2	+	5	1234	c.1105C>G	c.(1105-1107)Cca>Gca	p.P369A		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	94					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GCCACACAAACCAGACAGAGA	0.398																																						dbGAP											0													99.0	89.0	92.0					17																	57049625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.1105C>G	17.37:g.57049625C>G	ENSP00000312411:p.Pro369Ala		Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.P369A	ENST00000308249.2	37	c.1105	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544509	0.86022	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.22945	1.93	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.976;0.997	T	0.53173	-0.8476	10	0.62326	D	0.03	-14.4572	18.8738	0.92327	0.0:1.0:0.0:0.0	.	378;369	Q8WY54-3;Q8WY54-2	.;.	A	369;220	ENSP00000312411:P369A	ENSP00000312411:P369A	P	+	1	0	PPM1E	54404407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.441000	0.82636	0.462000	0.41574	CCA	PPM1E	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000175175		0.398	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	215	0.00	0	C	NM_014906		57049625	57049625	+1	no_errors	ENST00000308249	ensembl	human	known	69_37n	missense	211	20.97	56	SNP	1.000	G
PPP6R2	9701	genome.wustl.edu	37	22	50879409	50879410	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr22:50879409_50879410insC	ENST00000216061.5	+	23	2924_2925	c.2554_2555insC	c.(2554-2556)gccfs	p.A852fs	PPP6R2_ENST00000359139.3_Frame_Shift_Ins_p.A819fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.A819fs|PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.A818fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	852						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGGCCGGGAGGCCCCCCCGCTG	0.723																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2561dupC	22.37:g.50879416_50879416dupC	ENSP00000216061:p.Ala852fs		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Ins	INS	pfam_SAPS,superfamily_ARM-type_fold	p.L855fs	ENST00000216061.5	37	c.2554_2555		22																																																																																			PPP6R2	-	NULL	ENSG00000100239		0.723	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	33	0.00	0	-	NM_014678		50879409	50879410	+1	no_errors	ENST00000216061	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.015:0.000	C
PRDM11	56981	genome.wustl.edu	37	11	45245850	45245850	+	Silent	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr11:45245850G>A	ENST00000530656.1	+	7	927	c.927G>A	c.(925-927)gtG>gtA	p.V309V	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000263765.4_Silent_p.V309V|PRDM11_ENST00000424263.2_Silent_p.V275V|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	309							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ATCTCTCTGTGCTGAGACAGG	0.498																																					NSCLC(118;1511 1736 6472 36603 43224)	dbGAP											0													122.0	132.0	129.0					11																	45245850		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.927G>A	11.37:g.45245850G>A			Q8N9F1	Silent	SNP	pfscan_SET_dom	p.V309	ENST00000530656.1	37	c.927		11																																																																																			PRDM11	-	NULL	ENSG00000019485		0.498	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	589	0.00	0	G	NM_020229		45245850	45245850	+1	no_errors	ENST00000263765	ensembl	human	known	69_37n	silent	289	18.13	64	SNP	0.451	A
PRRC2B	84726	genome.wustl.edu	37	9	134346218	134346218	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr9:134346218C>A	ENST00000357304.4	+	13	2010	c.1955C>A	c.(1954-1956)cCg>cAg	p.P652Q	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P652Q|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P652Q	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	652							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTGTACCCCCCGCCGTCCCAC	0.617																																						dbGAP											0													28.0	33.0	31.0					9																	134346218		2084	4207	6291	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1955C>A	9.37:g.134346218C>A	ENSP00000349856:p.Pro652Gln		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.P652Q	ENST00000357304.4	37	c.1955	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372313	0.61624	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.17054	2.3;2.3;2.3	5.91	5.91	0.95273	.	0.000000	0.41500	U	0.000868	T	0.41994	0.1183	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.03483	-1.1032	10	0.25106	T	0.35	-8.9663	19.2845	0.94065	0.0:1.0:0.0:0.0	.	652	Q5JSZ5	PRC2B_HUMAN	Q	652	ENSP00000384606:P652Q;ENSP00000349856:P652Q;ENSP00000398853:P652Q	ENSP00000349856:P652Q	P	+	2	0	PRRC2B	133336039	0.978000	0.34361	0.834000	0.33040	0.372000	0.29890	5.405000	0.66351	2.813000	0.96785	0.655000	0.94253	CCG	PRRC2B	-	NULL	ENSG00000130723		0.617	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		65	0.00	0	C			134346218	134346218	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	31	32.61	15	SNP	0.985	A
PRSS12	8492	genome.wustl.edu	37	4	119203269	119203269	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr4:119203269C>T	ENST00000296498.3	-	13	2732	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	PRSS12_ENST00000510903.1_5'Flank|SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	817	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCTGTCCACGCGTTTGTGTTC	0.542																																						dbGAP											0													98.0	92.0	94.0					4																	119203269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2450G>A	4.37:g.119203269C>T	ENSP00000296498:p.Arg817His		Q9UP16	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A	p.R817H	ENST00000296498.3	37	c.2450	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044142	0.36085	.	.	ENSG00000164099	ENST00000296498	D	0.93019	-3.15	6.08	3.03	0.35002	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.568170	0.20675	N	0.087754	D	0.83949	0.5365	N	0.16066	0.365	0.27031	N	0.964231	B	0.23316	0.083	B	0.19666	0.026	T	0.74061	-0.3786	10	0.39692	T	0.17	.	5.7084	0.17921	0.1163:0.6341:0.1132:0.1365	.	817	P56730	NETR_HUMAN	H	817	ENSP00000296498:R817H	ENSP00000296498:R817H	R	-	2	0	PRSS12	119422717	0.380000	0.25131	0.010000	0.14722	0.839000	0.47603	1.005000	0.29834	0.901000	0.36495	-0.216000	0.12614	CGC	PRSS12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000164099		0.542	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	554	0.00	0	C			119203269	119203269	-1	no_errors	ENST00000296498	ensembl	human	known	69_37n	missense	390	22.77	115	SNP	0.262	T
QARS	5859	genome.wustl.edu	37	3	49140800	49140800	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr3:49140800A>C	ENST00000306125.6	-	5	831	c.494T>G	c.(493-495)aTc>aGc	p.I165S	QARS_ENST00000414533.1_Missense_Mutation_p.I154S|QARS_ENST00000420147.2_Missense_Mutation_p.I183S|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	165					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTCATTCTTGATCATTTTGCC	0.512																																						dbGAP											0													155.0	137.0	143.0					3																	49140800		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.494T>G	3.37:g.49140800A>C	ENSP00000307567:p.Ile165Ser		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.I165S	ENST00000306125.6	37	c.494	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	A	26.7	4.764077	0.89932	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.25414	1.8;1.82	5.71	5.71	0.89125	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 (1);	0.217659	0.46145	D	0.000308	T	0.53818	0.1820	M	0.80183	2.485	0.58432	D	0.999993	D;D;D	0.71674	0.998;0.978;0.978	D;P;P	0.70935	0.971;0.841;0.841	T	0.59815	-0.7383	10	0.87932	D	0	-19.2258	16.0042	0.80349	1.0:0.0:0.0:0.0	.	183;154;165	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	S	165;154;183;207;165	ENSP00000307567:I165S;ENSP00000390015:I154S	ENSP00000307567:I165S	I	-	2	0	QARS	49115804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.870000	0.92336	2.171000	0.68590	0.528000	0.53228	ATC	QARS	-	pfam_Gln-tRNA-synth_Ib_RNA-bd_2	ENSG00000172053		0.512	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	93	0.00	0	A	NM_005051		49140800	49140800	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	1.000	C
RAB5C	5878	genome.wustl.edu	37	17	40280782	40280783	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr17:40280782_40280783insT	ENST00000346213.4	-	3	414_415	c.202_203insA	c.(202-204)acafs	p.T68fs	CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.T68fs|RAB5C_ENST00000547517.1_Frame_Shift_Ins_p.T101fs|RAB5C_ENST00000393860.3_Frame_Shift_Ins_p.T68fs	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	68					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CTTGACTGTTGTGTCATCCAGG	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.203dupA	17.37:g.40280783_40280783dupT	ENSP00000345689:p.Thr68fs		F8W1H5|Q6FH55|Q9P0Y5	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T68fs	ENST00000346213.4	37	c.203_202	CCDS11419.1	17																																																																																			RAB5C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000108774		0.574	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5C	HGNC	protein_coding	OTTHUMT00000405509.1	338	0.00	0	-	NM_004583		40280782	40280783	-1	no_errors	ENST00000346213	ensembl	human	known	69_37n	frame_shift_ins	176	16.98	36	INS	1.000:1.000	T
RAP2A	5911	genome.wustl.edu	37	13	98086995	98086995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr13:98086995C>T	ENST00000245304.4	+	1	520	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	91					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GCAGAGCTTCCAGGACATCAA	0.662																																						dbGAP											0													77.0	73.0	74.0					13																	98086995		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.271C>T	13.37:g.98086995C>T	ENSP00000245304:p.Gln91*		B2RCJ1|Q5JSC1|Q5JSC2	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q91*	ENST00000245304.4	37	c.271	CCDS9485.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.354605	0.98231	.	.	ENSG00000125249	ENST00000245304	.	.	.	3.19	2.34	0.29019	.	0.131802	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.4598	0.44572	0.0:0.9024:0.0:0.0976	.	.	.	.	X	91	.	ENSP00000245304:Q91X	Q	+	1	0	RAP2A	96884996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.568000	0.67385	0.702000	0.31825	0.484000	0.47621	CAG	RAP2A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000125249		0.662	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2A	HGNC	protein_coding	OTTHUMT00000045528.4	74	0.00	0	C			98086995	98086995	+1	no_errors	ENST00000245304	ensembl	human	known	69_37n	nonsense	19	38.71	12	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34130643	34130643	+	Silent	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr15:34130643C>T	ENST00000389232.4	+	89	12532	c.12462C>T	c.(12460-12462)acC>acT	p.T4154T	RYR3_ENST00000415757.3_Silent_p.T4149T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4154					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.T4153T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAATGTCACCGACTTCCTGA	0.507																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											98.0	101.0	100.0					15																	34130643		1929	4121	6050	-	-	-	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12462C>T	15.37:g.34130643C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.T4154	ENST00000389232.4	37	c.12462	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	268	0.37	1	C			34130643	34130643	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	silent	137	28.72	56	SNP	0.055	T
SLC20A1	6574	genome.wustl.edu	37	2	113417065	113417065	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr2:113417065A>C	ENST00000272542.3	+	8	1872	c.1333A>C	c.(1333-1335)Atg>Ctg	p.M445L		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	445					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GGGCGAAGAAATGGAGAAGCT	0.463																																						dbGAP											0													120.0	108.0	112.0					2																	113417065		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1333A>C	2.37:g.113417065A>C	ENSP00000272542:p.Met445Leu		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	pfam_Phos_transporter	p.M445L	ENST00000272542.3	37	c.1333	CCDS2099.1	2	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518258	0.27211	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.89617	-2.54	5.33	4.18	0.49190	.	0.302746	0.40908	N	0.001000	T	0.78375	0.4273	N	0.20685	0.6	0.24145	N	0.995719	B;B	0.09022	0.002;0.002	B;B	0.18263	0.021;0.021	T	0.62760	-0.6786	10	0.25106	T	0.35	-25.6417	7.0666	0.25156	0.8239:0.0:0.1761:0.0	.	445;445	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	L	445;257	ENSP00000272542:M445L	ENSP00000272542:M445L	M	+	1	0	SLC20A1	113133536	0.356000	0.24930	0.996000	0.52242	0.828000	0.46876	1.004000	0.29822	0.879000	0.35944	-0.264000	0.10439	ATG	SLC20A1	-	pfam_Phos_transporter	ENSG00000144136		0.463	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	HGNC	protein_coding	OTTHUMT00000254086.2	394	0.00	0	A	NM_005415		113417065	113417065	+1	no_errors	ENST00000272542	ensembl	human	known	69_37n	missense	245	20.45	63	SNP	1.000	C
SLC6A5	9152	genome.wustl.edu	37	11	20652303	20652303	+	Silent	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr11:20652303C>T	ENST00000525748.1	+	10	1839	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	522					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCATCTTCTCCGTTATCGGCT	0.507																																						dbGAP											0													185.0	156.0	166.0					11																	20652303		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1566C>T	11.37:g.20652303C>T			O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.S522	ENST00000525748.1	37	c.1566	CCDS7854.1	11																																																																																			SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000165970		0.507	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	204	0.00	0	C	NM_004211		20652303	20652303	+1	no_errors	ENST00000525748	ensembl	human	known	69_37n	silent	40	65.81	77	SNP	0.129	T
SPATA18	132671	genome.wustl.edu	37	4	52917745	52917745	+	5'UTR	SNP	C	C	G			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr4:52917745C>G	ENST00000295213.4	+	0	249				SPATA18_ENST00000419395.2_5'UTR|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18						cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAAACACCTGCCGCGCTCTGA	0.716																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.-126C>G	4.37:g.52917745C>G			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	RNA	SNP	-	NULL	ENST00000295213.4	37	NULL	CCDS3489.1	4																																																																																			SPATA18	-	-	ENSG00000163071		0.716	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	72	0.00	0	C	NM_145263		52917745	52917745	+1	no_errors	ENST00000506829	ensembl	human	known	69_37n	rna	23	17.86	5	SNP	0.016	G
SMAD1	4086	genome.wustl.edu	37	4	146475147	146475147	+	Silent	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr4:146475147C>T	ENST00000515385.1	+	6	1751	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	SMAD1_ENST00000394092.2_Silent_p.V403V|SMAD1_ENST00000302085.4_Silent_p.V403V			Q15797	SMAD1_HUMAN	SMAD family member 1	403	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TTGAGACAGTCTATGAGCTTA	0.403																																					Pancreas(182;1287 2092 10326 35158 50562)	dbGAP											0													133.0	131.0	132.0					4																	146475147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1209C>T	4.37:g.146475147C>T			A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.V403	ENST00000515385.1	37	c.1209	CCDS3765.1	4																																																																																			SMAD1	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000170365		0.403	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	491	0.00	0	C	NM_005900		146475147	146475147	+1	no_errors	ENST00000302085	ensembl	human	known	69_37n	silent	338	22.48	98	SNP	0.993	T
TDRD6	221400	genome.wustl.edu	37	6	46657105	46657105	+	Missense_Mutation	SNP	T	T	A	rs148799553	byFrequency	TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr6:46657105T>A	ENST00000316081.6	+	1	1240	c.1240T>A	c.(1240-1242)Tcc>Acc	p.S414T	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.S414T|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	414					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATTTTATTGCTCCTTTGAGCA	0.488																																						dbGAP											0													101.0	100.0	101.0					6																	46657105		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1240T>A	6.37:g.46657105T>A	ENSP00000346065:p.Ser414Thr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.S414T	ENST00000316081.6	37	c.1240	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	T	11.06	1.526611	0.27299	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14893	2.47;2.48	5.36	1.39	0.22231	.	0.759254	0.13072	N	0.416050	T	0.05456	0.0144	L	0.45581	1.43	0.21822	N	0.999525	P;P	0.39282	0.666;0.536	B;B	0.39971	0.315;0.167	T	0.36939	-0.9727	10	0.20519	T	0.43	-21.2161	8.0391	0.30511	0.0:0.0704:0.3869:0.5427	.	414;414	F5H5M3;O60522	.;TDRD6_HUMAN	T	414	ENSP00000443299:S414T;ENSP00000346065:S414T	ENSP00000346065:S414T	S	+	1	0	TDRD6	46765064	0.987000	0.35691	0.795000	0.32087	0.984000	0.73092	1.261000	0.32980	0.087000	0.17167	0.533000	0.62120	TCC	TDRD6	-	NULL	ENSG00000180113		0.488	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	138	0.00	0	T	XM_166443		46657105	46657105	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	0.521	A
TM7SF2	7108	genome.wustl.edu	37	11	64883379	64883379	+	Silent	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr11:64883379C>T	ENST00000279263.7	+	10	1273	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	TM7SF2_ENST00000540748.1_Silent_p.L255L|AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.L344L	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	371					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCACACCTGCTGCCCTACTT	0.632																																						dbGAP											0													54.0	60.0	58.0					11																	64883379		2083	4206	6289	-	-	-	SO:0001819	synonymous_variant	0			BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.1111C>T	11.37:g.64883379C>T			A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295	p.L371	ENST00000279263.7	37	c.1111	CCDS41669.1	11																																																																																			TM7SF2	-	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295	ENSG00000149809		0.632	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF2	HGNC	protein_coding	OTTHUMT00000385234.1	40	0.00	0	C	NM_003273		64883379	64883379	+1	no_errors	ENST00000279263	ensembl	human	known	69_37n	silent	4	71.43	10	SNP	1.000	T
TREM1	54210	genome.wustl.edu	37	6	41248835	41248835	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr6:41248835G>A	ENST00000244709.4	-	3	526	c.463C>T	c.(463-465)Cct>Tct	p.P155S	TREM1_ENST00000589614.1_Missense_Mutation_p.P155S|TREM1_ENST00000334475.6_Intron|TREM1_ENST00000591620.1_Missense_Mutation_p.P155S	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	155					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GTGGTAGGAGGAATCTTATAC	0.507																																						dbGAP											0													124.0	112.0	116.0					6																	41248835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.463C>T	6.37:g.41248835G>A	ENSP00000244709:p.Pro155Ser		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub	p.P155S	ENST00000244709.4	37	c.463	CCDS4854.1	6	.	.	.	.	.	.	.	.	.	.	G	8.492	0.862213	0.17178	.	.	ENSG00000124731	ENST00000244709	T	0.08102	3.13	3.67	-4.55	0.03441	.	1.758420	0.03319	N	0.191600	T	0.01976	0.0062	L	0.58101	1.795	0.09310	N	1	B	0.30281	0.275	B	0.20767	0.031	T	0.37033	-0.9723	10	0.27785	T	0.31	-0.1376	2.9933	0.05990	0.1521:0.4746:0.1762:0.1971	.	155	Q9NP99	TREM1_HUMAN	S	155	ENSP00000244709:P155S	ENSP00000244709:P155S	P	-	1	0	TREM1	41356813	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.549000	0.02182	-1.144000	0.02862	0.563000	0.77884	CCT	TREM1	-	NULL	ENSG00000124731		0.507	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM1	HGNC	protein_coding	OTTHUMT00000040505.2	138	0.00	0	G	NM_018643		41248835	41248835	-1	no_errors	ENST00000244709	ensembl	human	known	69_37n	missense	98	23.44	30	SNP	0.000	A
UTRN	7402	genome.wustl.edu	37	6	144838085	144838085	+	Splice_Site	SNP	G	G	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr6:144838085G>T	ENST00000367545.3	+	38	5541		c.e38+1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAAAATTAAGGTATTATGATT	0.328																																						dbGAP											0													62.0	64.0	63.0					6																	144838085		2202	4295	6497	-	-	-	SO:0001630	splice_region_variant	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5541+1G>T	6.37:g.144838085G>T			Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	-	e38+1	ENST00000367545.3	37	c.5541+1	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303628	0.81136	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	144879778	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	4.472000	0.60189	2.890000	0.99128	0.650000	0.86243	.	UTRN	-	-	ENSG00000152818		0.328	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	120	0.00	0	G		Intron	144838085	144838085	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	splice_site	105	14.63	18	SNP	1.000	T
ZCCHC6	79670	genome.wustl.edu	37	9	88937958	88937958	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03P-01A-11W-A019-09	TCGA-AO-A03P-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	185c5e15-c068-4a72-8d5e-468624bf958a	bac92eb4-e818-4d79-b4b0-b10c31ba6d4e	g.chr9:88937958C>T	ENST00000375963.3	-	13	2879	c.2707G>A	c.(2707-2709)Gct>Act	p.A903T	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.A192T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A903T|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A780T	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	903	Glu-rich.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATACTTAGCAGCTTCGCCT	0.418																																						dbGAP											0													159.0	138.0	145.0					9																	88937958		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2707G>A	9.37:g.88937958C>T	ENSP00000365130:p.Ala903Thr		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.A903T	ENST00000375963.3	37	c.2707	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.665831	0.00765	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.55930	0.49;0.91;0.92;0.92	5.48	0.442	0.16582	.	0.684015	0.15487	N	0.259744	T	0.29716	0.0742	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.17930	-1.0353	10	0.13470	T	0.59	-35.3027	5.1062	0.14785	0.1327:0.4845:0.0:0.3828	.	780;903	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	T	192;780;903;903	ENSP00000277141:A192T;ENSP00000365127:A780T;ENSP00000365128:A903T;ENSP00000365130:A903T	ENSP00000277141:A192T	A	-	1	0	ZCCHC6	88127778	0.025000	0.19082	0.003000	0.11579	0.056000	0.15407	0.440000	0.21592	-0.072000	0.12864	0.650000	0.86243	GCT	ZCCHC6	-	NULL	ENSG00000083223		0.418	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	350	0.00	0	C	NM_024617		88937958	88937958	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	missense	237	20.47	61	SNP	0.008	T
