#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCA4	24	genome.wustl.edu	37	1	94510272	94510272	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:94510272T>A	ENST00000370225.3	-	20	3033	c.2947A>T	c.(2947-2949)Acc>Tcc	p.T983S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	983	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCCAGAGGTTGGTGGCAAC	0.582																																						dbGAP											0													158.0	133.0	141.0					1																	94510272		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2947A>T	1.37:g.94510272T>A	ENSP00000359245:p.Thr983Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.T983S	ENST00000370225.3	37	c.2947	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913231	0.52439	.	.	ENSG00000198691	ENST00000370225	D	0.94184	-3.37	5.72	5.72	0.89469	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91442	0.7299	L	0.39566	1.225	0.80722	D	1	P	0.47350	0.894	P	0.53988	0.739	D	0.90630	0.4566	10	0.30854	T	0.27	.	16.0204	0.80478	0.0:0.0:0.0:1.0	.	983	P78363	ABCA4_HUMAN	S	983	ENSP00000359245:T983S	ENSP00000359245:T983S	T	-	1	0	ABCA4	94282860	1.000000	0.71417	0.145000	0.22337	0.166000	0.22503	6.296000	0.72751	2.174000	0.68829	0.533000	0.62120	ACC	ABCA4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	ENSG00000198691		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	166	0.60	1	T	NM_000350		94510272	94510272	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	missense	74	38.33	46	SNP	0.998	A
ACCSL	390110	genome.wustl.edu	37	11	44069730	44069730	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr11:44069730G>A	ENST00000378832.1	+	1	200	c.144G>A	c.(142-144)acG>acA	p.T48T		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	48					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGCAGCTGACGAGCAGACAGG	0.582																																						dbGAP											0													53.0	59.0	57.0					11																	44069730		2100	4229	6329	-	-	-	SO:0001819	synonymous_variant	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.144G>A	11.37:g.44069730G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.T48	ENST00000378832.1	37	c.144	CCDS41636.1	11																																																																																			ACCSL	-	NULL	ENSG00000205126		0.582	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	33	0.00	0	G	NM_001031854		44069730	44069730	+1	no_errors	ENST00000378832	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.000	A
ADAMTS2	9509	genome.wustl.edu	37	5	178552015	178552015	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:178552015C>T	ENST00000251582.7	-	19	3018	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	973					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCAGAGCTCGCGGCTGCAG	0.682																																						dbGAP											0													37.0	43.0	41.0					5																	178552015		2199	4296	6495	-	-	-	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2917G>A	5.37:g.178552015C>T	ENSP00000251582:p.Glu973Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E973K	ENST00000251582.7	37	c.2917	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393099	0.25118	.	.	ENSG00000087116	ENST00000251582	T	0.52526	0.66	5.31	4.39	0.52855	.	0.454333	0.20354	N	0.093987	T	0.30103	0.0754	L	0.28192	0.835	0.25320	N	0.98913	P	0.39116	0.66	B	0.31869	0.137	T	0.12604	-1.0541	10	0.18276	T	0.48	.	13.3091	0.60370	0.0:0.7122:0.2877:0.0	.	973	O95450	ATS2_HUMAN	K	973	ENSP00000251582:E973K	ENSP00000251582:E973K	E	-	1	0	ADAMTS2	178484621	0.002000	0.14202	0.964000	0.40570	0.900000	0.52787	0.302000	0.19192	2.481000	0.83766	0.655000	0.94253	GAG	ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000087116		0.682	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	26	0.00	0	C	NM_014244		178552015	178552015	-1	no_errors	ENST00000251582	ensembl	human	known	69_37n	missense	31	46.55	27	SNP	0.294	T
ADD1	118	genome.wustl.edu	37	4	2906605	2906605	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:2906605G>A	ENST00000398129.1	+	9	1296	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	ADD1_ENST00000503455.2_Missense_Mutation_p.D426N|ADD1_ENST00000264758.7_Missense_Mutation_p.D426N|ADD1_ENST00000398123.2_Missense_Mutation_p.D426N|ADD1_ENST00000513328.2_Missense_Mutation_p.D426N|ADD1_ENST00000355842.3_Missense_Mutation_p.D426N|ADD1_ENST00000446856.1_Missense_Mutation_p.D426N|ADD1_ENST00000398125.1_Missense_Mutation_p.D426N			P35611	ADDA_HUMAN	adducin 1 (alpha)	426					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAGTGACGGTGATTCGGGCAC	0.527																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	dbGAP											0													103.0	95.0	98.0					4																	2906605		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1276G>A	4.37:g.2906605G>A	ENSP00000381197:p.Asp426Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.D426N	ENST00000398129.1	37	c.1276	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407268	0.83230	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.36	5.36	0.76844	.	0.091963	0.64402	D	0.000001	T	0.27454	0.0674	N	0.25890	0.77	0.80722	D	1	B;B;P;B;B;B	0.41041	0.255;0.288;0.736;0.338;0.449;0.082	B;B;B;P;B;B	0.44518	0.063;0.358;0.159;0.452;0.311;0.059	T	0.02632	-1.1131	10	0.52906	T	0.07	-29.0447	19.0947	0.93246	0.0:0.0:1.0:0.0	.	426;426;426;426;426;426	B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;ADDA_HUMAN;.;.;.	N	426	ENSP00000264758:D426N;ENSP00000399828:D426N;ENSP00000381193:D426N;ENSP00000421907:D426N;ENSP00000423024:D426N;ENSP00000348100:D426N;ENSP00000381191:D426N;ENSP00000381197:D426N	ENSP00000264758:D426N	D	+	1	0	ADD1	2876403	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	9.787000	0.99055	2.508000	0.84585	0.655000	0.94253	GAT	ADD1	-	NULL	ENSG00000087274		0.527	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	119	0.00	0	G	NM_014189		2906605	2906605	+1	no_errors	ENST00000264758	ensembl	human	known	69_37n	missense	100	25.93	35	SNP	1.000	A
AFF4	27125	genome.wustl.edu	37	5	132270412	132270412	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:132270412G>A	ENST00000265343.5	-	3	724	c.345C>T	c.(343-345)ccC>ccT	p.P115P	AFF4_ENST00000378595.3_Silent_p.P115P|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	115	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGAAGTGCTGGGTGCGGGTC	0.502																																					Ovarian(126;889 1733 2942 10745 11605)	dbGAP											0													103.0	100.0	101.0					5																	132270412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.345C>T	5.37:g.132270412G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	pfam_TF_AF4/FMR2	p.P115	ENST00000265343.5	37	c.345	CCDS4164.1	5																																																																																			AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.502	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	234	0.00	0	G	NM_014423		132270412	132270412	-1	no_errors	ENST00000265343	ensembl	human	known	69_37n	silent	218	44.97	179	SNP	0.792	A
AGPAT6	137964	genome.wustl.edu	37	8	41471927	41471927	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr8:41471927A>G	ENST00000396987.3	+	9	1861	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	312					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			tgtgcaagataaaagcaagct	0.408																																						dbGAP											0													61.0	63.0	62.0					8																	41471927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.934A>G	8.37:g.41471927A>G	ENSP00000380184:p.Lys312Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V89	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.K312E	ENST00000396987.3	37	c.934	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862853	0.32884	.	.	ENSG00000158669	ENST00000396987	D	0.92446	-3.04	4.39	4.39	0.52855	Phospholipid/glycerol acyltransferase (2);	0.046324	0.85682	D	0.000000	D	0.85089	0.5617	L	0.33710	1.025	0.48185	D	0.9996	B	0.09022	0.002	B	0.12837	0.008	T	0.78244	-0.2279	10	0.12766	T	0.61	.	10.2001	0.43077	1.0:0.0:0.0:0.0	.	312	Q86UL3	GPAT4_HUMAN	E	312	ENSP00000380184:K312E	ENSP00000380184:K312E	K	+	1	0	AGPAT6	41591084	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.384000	0.59607	1.993000	0.58246	0.533000	0.62120	AAA	AGPAT6	-	pfam_Acyltransferase,smart_Acyltransferase	ENSG00000158669		0.408	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	HGNC	protein_coding	OTTHUMT00000377158.1	97	0.00	0	A	NM_178819		41471927	41471927	+1	no_errors	ENST00000396987	ensembl	human	known	69_37n	missense	55	40.22	37	SNP	1.000	G
APOB	338	genome.wustl.edu	37	2	21247970	21247970	+	Silent	SNP	A	A	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr2:21247970A>G	ENST00000233242.1	-	16	2398	c.2271T>C	c.(2269-2271)agT>agC	p.S757S	APOB_ENST00000399256.4_Silent_p.S757S	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	757					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCTCAACACTGAGCATTA	0.448																																						dbGAP											0													84.0	86.0	85.0					2																	21247970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2271T>C	2.37:g.21247970A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S757	ENST00000233242.1	37	c.2271	CCDS1703.1	2																																																																																			APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell	ENSG00000084674		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	99	0.00	0	A			21247970	21247970	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	silent	99	22.66	29	SNP	0.000	G
ARG1	383	genome.wustl.edu	37	6	131903781	131903781	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr6:131903781C>G	ENST00000368087.3	+	5	625	c.486C>G	c.(484-486)ttC>ttG	p.F162L	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.F170L			P05089	ARGI1_HUMAN	arginase 1	162					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TGCCAGGATTCTCCTGGGTGA	0.403																																						dbGAP											0													160.0	150.0	153.0					6																	131903781		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.486C>G	6.37:g.131903781C>G	ENSP00000357066:p.Phe162Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.F170L	ENST00000368087.3	37	c.510	CCDS5145.1	6	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054313	0.55218	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;T;T	0.96041	-3.89;1.1;1.1	5.8	3.96	0.45880	Ureohydrolase domain (1);	0.092020	0.85682	N	0.000000	D	0.84579	0.5503	N	0.25245	0.725	0.80722	D	1	B;B	0.19445	0.036;0.018	B;B	0.24155	0.03;0.051	T	0.82912	-0.0222	10	0.56958	D	0.05	-8.1163	5.6032	0.17365	0.1589:0.6783:0.0:0.1628	.	170;162	P05089-2;P05089	.;ARGI1_HUMAN	L	162;170;162	ENSP00000357066:F162L;ENSP00000349446:F170L;ENSP00000417694:F162L	ENSP00000349446:F170L	F	+	3	2	ARG1	131945474	0.989000	0.36119	1.000000	0.80357	0.990000	0.78478	0.286000	0.18902	1.455000	0.47813	0.655000	0.94253	TTC	ARG1	-	pfam_Ureohydrolase,tigrfam_Arginase	ENSG00000118520		0.403	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG1	HGNC	protein_coding	OTTHUMT00000042223.1	198	0.00	0	C			131903781	131903781	+1	no_errors	ENST00000356962	ensembl	human	known	69_37n	missense	125	30.56	55	SNP	1.000	G
ARHGAP24	83478	genome.wustl.edu	37	4	86916664	86916664	+	Silent	SNP	A	A	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:86916664A>T	ENST00000395184.1	+	9	2323	c.1857A>T	c.(1855-1857)cgA>cgT	p.R619R	ARHGAP24_ENST00000395183.2_Silent_p.R524R|ARHGAP24_ENST00000264343.4_Silent_p.R526R	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	619					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGGGAGGTCGAAGTAGTCGTG	0.542																																						dbGAP											0													110.0	102.0	105.0					4																	86916664		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1857A>T	4.37:g.86916664A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R619	ENST00000395184.1	37	c.1857	CCDS34025.1	4																																																																																			ARHGAP24	-	NULL	ENSG00000138639		0.542	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	91	0.00	0	A	NM_031305		86916664	86916664	+1	no_errors	ENST00000395184	ensembl	human	known	69_37n	silent	57	29.63	24	SNP	0.785	T
ARHGEF10	9639	genome.wustl.edu	37	8	1844604	1844604	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr8:1844604G>C	ENST00000398564.1	+	14	1621	c.1621G>C	c.(1621-1623)Gaa>Caa	p.E541Q	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E516Q|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E541Q|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E541Q|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E478Q|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E502Q			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	541	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGCTTTTCTTGAATTTTTAAA	0.388																																						dbGAP											0													80.0	83.0	82.0					8																	1844604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1621G>C	8.37:g.1844604G>C	ENSP00000381571:p.Glu541Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.E541Q	ENST00000398564.1	37	c.1621		8	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905578	0.52333	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	4.91	4.91	0.64330	Dbl homology (DH) domain (5);	0.304291	0.34268	N	0.004104	T	0.72028	0.3410	L	0.47016	1.485	0.49798	D	0.99982	D;B;D;P	0.56746	0.977;0.193;0.971;0.703	P;P;P;P	0.60068	0.868;0.469;0.777;0.67	T	0.75510	-0.3292	10	0.72032	D	0.01	-14.0089	18.079	0.89437	0.0:0.0:1.0:0.0	.	541;502;478;516	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	Q	516;478;541;502;541;541;189	ENSP00000340297:E516Q;ENSP00000427909:E478Q;ENSP00000431012:E541Q;ENSP00000381568:E502Q;ENSP00000381571:E541Q;ENSP00000262112:E541Q;ENSP00000427768:E189Q	ENSP00000262112:E541Q	E	+	1	0	ARHGEF10	1832011	1.000000	0.71417	0.019000	0.16419	0.017000	0.09413	8.998000	0.93550	2.250000	0.74265	0.563000	0.77884	GAA	ARHGEF10	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000104728		0.388	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		148	0.00	0	G			1844604	1844604	+1	no_errors	ENST00000398564	ensembl	human	known	69_37n	missense	89	34.56	47	SNP	0.989	C
ATG5	9474	genome.wustl.edu	37	6	106740932	106740932	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr6:106740932G>C	ENST00000369076.3	-	4	609	c.286C>G	c.(286-288)Ctt>Gtt	p.L96V	ATG5_ENST00000369070.1_Missense_Mutation_p.L18V|ATG5_ENST00000343245.3_Missense_Mutation_p.L96V|ATG5_ENST00000360666.4_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	96					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TTCCAAGGAAGAGCTGAACTT	0.294																																						dbGAP											0													102.0	104.0	104.0					6																	106740932		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.286C>G	6.37:g.106740932G>C	ENSP00000358072:p.Leu96Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_5	p.L96V	ENST00000369076.3	37	c.286	CCDS5055.1	6	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256910	0.80246	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	M	0.86097	2.795	0.80722	D	1	P;P;P	0.52692	0.955;0.875;0.955	D;P;D	0.64410	0.925;0.771;0.925	T	0.80221	-0.1472	9	0.46703	T	0.11	-20.4106	18.748	0.91802	0.0:0.0:1.0:0.0	.	96;18;96	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	V	96;96;18	.	ENSP00000343313:L96V	L	-	1	0	ATG5	106847625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.667000	0.68067	2.800000	0.96347	0.655000	0.94253	CTT	ATG5	-	pfam_Autophagy-rel_prot_5	ENSG00000057663		0.294	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	HGNC	protein_coding	OTTHUMT00000043476.1	143	0.00	0	G	NM_004849		106740932	106740932	-1	no_errors	ENST00000343245	ensembl	human	known	69_37n	missense	100	31.51	46	SNP	1.000	C
ATP2B1	490	genome.wustl.edu	37	12	90028579	90028579	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:90028579C>T	ENST00000428670.3	-	5	1219	c.763G>A	c.(763-765)Gat>Aat	p.D255N	ATP2B1_ENST00000261173.2_Missense_Mutation_p.D255N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.D255N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.D255N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	255					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGATCCTTATCTAAAGACTTT	0.353																																						dbGAP											0													51.0	52.0	51.0					12																	90028579		2203	4297	6500	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.763G>A	12.37:g.90028579C>T	ENSP00000392043:p.Asp255Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D255N	ENST00000428670.3	37	c.763	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006922	0.74932	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.68	5.68	0.88126	.	0.094647	0.64402	D	0.000001	D	0.89511	0.6736	L	0.39566	1.225	0.80722	D	1	P;B	0.37370	0.592;0.022	B;B	0.42959	0.403;0.143	D	0.86672	0.1911	9	.	.	.	-16.397	20.1615	0.98135	0.0:1.0:0.0:0.0	.	255;255	P20020-3;P20020-2	.;.	N	255	ENSP00000261173:D255N;ENSP00000343599:D255N;ENSP00000352054:D255N;ENSP00000392043:D255N	.	D	-	1	0	ATP2B1	88552710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.919000	0.63383	2.835000	0.97688	0.650000	0.86243	GAT	ATP2B1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000070961		0.353	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	64	0.00	0	C	NM_001682		90028579	90028579	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	44	30.16	19	SNP	1.000	T
ATP6V0A2	23545	genome.wustl.edu	37	12	124218479	124218479	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:124218479G>C	ENST00000330342.3	+	7	903	c.655G>C	c.(655-657)Gtc>Ctc	p.V219L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	219					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GTAGGGGGAAGTCATAAAATG	0.353																																						dbGAP											0													161.0	159.0	160.0					12																	124218479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.655G>C	12.37:g.124218479G>C	ENSP00000332247:p.Val219Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K026|Q6NUM0	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.V219L	ENST00000330342.3	37	c.655	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204664	0.38905	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.85773	-2.03;-2.03	5.67	4.78	0.61160	.	0.368712	0.30036	N	0.010579	T	0.67249	0.2873	N	0.05534	-0.03	0.80722	D	1	B;B	0.26002	0.006;0.139	B;B	0.22152	0.038;0.037	T	0.61888	-0.6970	10	0.31617	T	0.26	-23.0798	6.0399	0.19728	0.165:0.285:0.5501:0.0	.	219;219	Q9Y487;Q8TBM3	VPP2_HUMAN;.	L	219;219;89	ENSP00000332247:V219L;ENSP00000443441:V89L	ENSP00000332247:V219L	V	+	1	0	ATP6V0A2	122784432	0.013000	0.17824	1.000000	0.80357	0.992000	0.81027	0.190000	0.17057	1.402000	0.46780	0.591000	0.81541	GTC	ATP6V0A2	-	pfam_ATPase_V0/A0_a	ENSG00000185344		0.353	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	248	0.40	1	G	NM_012463		124218479	124218479	+1	no_errors	ENST00000330342	ensembl	human	known	69_37n	missense	210	23.91	66	SNP	1.000	C
BROX	148362	genome.wustl.edu	37	1	222892339	222892339	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:222892339G>A	ENST00000340934.5	+	3	580	c.174G>A	c.(172-174)aaG>aaA	p.K58K	BROX_ENST00000539697.1_Silent_p.K58K|BROX_ENST00000537020.1_Silent_p.K58K	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	58						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						AAATGATGAAGAATGCAGCAG	0.323																																						dbGAP											0													153.0	144.0	147.0					1																	222892339		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.174G>A	1.37:g.222892339G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9G5|Q96MG1	Silent	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.K58	ENST00000340934.5	37	c.174	CCDS1534.1	1																																																																																			BROX	-	NULL	ENSG00000162819		0.323	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	BROX	HGNC	protein_coding	OTTHUMT00000091815.2	214	0.00	0	G	NM_144695		222892339	222892339	+1	no_errors	ENST00000340934	ensembl	human	known	69_37n	silent	248	21.02	66	SNP	1.000	A
C10orf12	26148	genome.wustl.edu	37	10	98742128	98742128	+	Silent	SNP	A	A	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr10:98742128A>C	ENST00000286067.2	+	1	1088	c.981A>C	c.(979-981)tcA>tcC	p.S327S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	327										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCACAGTCTCAGCTCCCACAG	0.582																																						dbGAP											0													83.0	82.0	82.0					10																	98742128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.981A>C	10.37:g.98742128A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H945|Q9Y457	Silent	SNP	NULL	p.S327	ENST00000286067.2	37	c.981	CCDS7452.1	10																																																																																			C10orf12	-	NULL	ENSG00000155640		0.582	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	73	0.00	0	A	NM_015652		98742128	98742128	+1	no_errors	ENST00000286067	ensembl	human	known	69_37n	silent	56	33.33	28	SNP	0.000	C
C3	718	genome.wustl.edu	37	19	6712586	6712586	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr19:6712586G>A	ENST00000245907.6	-	10	1144	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	351					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTGGTAGGGAGAGGTCACGAT	0.597																																						dbGAP											0													252.0	222.0	232.0					19																	6712586		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1052C>T	19.37:g.6712586G>A	ENSP00000245907:p.Ser351Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S351F	ENST00000245907.6	37	c.1052	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706509	0.89018	.	.	ENSG00000125730	ENST00000245907	T	0.38401	1.14	5.13	5.13	0.70059	.	0.111710	0.64402	D	0.000006	T	0.70281	0.3206	M	0.93808	3.46	0.50467	D	0.99987	D	0.89917	1.0	D	0.77557	0.99	T	0.79667	-0.1708	10	0.87932	D	0	.	17.3524	0.87327	0.0:0.0:1.0:0.0	.	351	P01024	CO3_HUMAN	F	351	ENSP00000245907:S351F	ENSP00000245907:S351F	S	-	2	0	C3	6663586	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.923000	0.75817	2.392000	0.81423	0.561000	0.74099	TCT	C3	-	NULL	ENSG00000125730		0.597	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	325	0.00	0	G	NM_000064		6712586	6712586	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	missense	196	28.47	78	SNP	1.000	A
PROB1	389333	genome.wustl.edu	37	5	138728026	138728026	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:138728026C>T	ENST00000434752.2	-	1	2859	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	MZB1_ENST00000412103.2_5'Flank|MZB1_ENST00000457570.2_5'Flank|MZB1_ENST00000302125.8_5'Flank	NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	915	Pro-rich.																GCAGCAACACCTCCACGTACT	0.701																																						dbGAP											0													5.0	10.0	9.0					5																	138728026		666	1549	2215	-	-	-	SO:0001819	synonymous_variant	0			AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.2745G>A	5.37:g.138728026C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E007	Silent	SNP	NULL	p.E915	ENST00000434752.2	37	c.2745	CCDS54909.1	5																																																																																			C5orf65	-	NULL	ENSG00000228672		0.701	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf65	HGNC	protein_coding	OTTHUMT00000470735.1	11	0.00	0	C	NM_001161546		138728026	138728026	-1	no_errors	ENST00000434752	ensembl	human	known	69_37n	silent	7	41.67	5	SNP	0.998	T
CACNA1C	775	genome.wustl.edu	37	12	2622018	2622018	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:2622018G>C	ENST00000347598.4	+	9	1258	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420H|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	420					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCCGGGGAGATTTCCAGAA	0.562																																						dbGAP											0													29.0	35.0	33.0					12																	2622018		2144	4267	6411	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1258G>C	12.37:g.2622018G>C	ENSP00000266376:p.Asp420His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.D420H	ENST00000347598.4	37	c.1258	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655791	0.88056	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	4.67	4.67	0.58626	.	0.046376	0.85682	D	0.000000	D	0.98811	0.9599	M	0.92268	3.29	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.967;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.995;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.66;0.999;0.999;0.971;0.999;0.999;0.999;0.999;0.987;0.996;0.999;0.999;0.982;0.999;0.997;0.999;0.998;0.987;0.999;0.987;0.998;0.999;0.999;0.998;0.999	D	0.99605	1.0979	10	0.87932	D	0	.	18.1293	0.89596	0.0:0.0:1.0:0.0	.	49;420;417;420;420;420;420;420;420;420;420;420;391;420;420;420;420;420;420;420;420;420;420;420;420	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;261	ENSP00000336982:D420H;ENSP00000382563:D420H;ENSP00000437936:D420H;ENSP00000382552:D420H;ENSP00000382547:D420H;ENSP00000382506:D420H;ENSP00000382530:D420H;ENSP00000382546:D420H;ENSP00000382500:D420H;ENSP00000382549:D420H;ENSP00000266376:D420H;ENSP00000382515:D420H;ENSP00000382510:D420H;ENSP00000341092:D420H;ENSP00000382537:D420H;ENSP00000329877:D420H;ENSP00000382557:D420H;ENSP00000385724:D420H;ENSP00000382512:D420H;ENSP00000382542:D420H;ENSP00000382526:D420H;ENSP00000385896:D420H;ENSP00000382504:D420H	ENSP00000323129:D261H	D	+	1	0	CACNA1C	2492279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.593000	0.98250	2.581000	0.87130	0.655000	0.94253	GAT	CACNA1C	-	prints_VDCCAlpha1,prints_VDCC_L_a1su	ENSG00000151067		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	79	0.00	0	G	NM_000719		2622018	2622018	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	C
CACNA1D	776	genome.wustl.edu	37	3	53757826	53757826	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:53757826A>G	ENST00000350061.5	+	14	2411	c.1900A>G	c.(1900-1902)Act>Gct	p.T634A	CACNA1D_ENST00000422281.2_Missense_Mutation_p.T634A|CACNA1D_ENST00000288139.4_Missense_Mutation_p.T654A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	634					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGGCACTGGACTTCCCTGAG	0.488																																						dbGAP											0													166.0	150.0	155.0					3																	53757826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1900A>G	3.37:g.53757826A>G	ENSP00000288133:p.Thr634Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.T654A	ENST00000350061.5	37	c.1960	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	A	8.665	0.901468	0.17760	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	5.97	5.97	0.96955	Ion transport (1);	0.074394	0.56097	D	0.000025	D	0.94424	0.8206	N	0.21545	0.675	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.10450	0.002;0.002;0.005;0.001	D	0.91309	0.5073	10	0.14656	T	0.56	.	11.0255	0.47743	0.9226:0.0:0.0774:0.0	.	634;327;634;654	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	A	634;654;634;327	ENSP00000288133:T634A;ENSP00000288139:T654A;ENSP00000409174:T634A;ENSP00000418014:T327A	ENSP00000288139:T654A	T	+	1	0	CACNA1D	53732866	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.311000	0.43717	2.285000	0.76669	0.477000	0.44152	ACT	CACNA1D	-	pfam_Ion_trans_dom	ENSG00000157388		0.488	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	216	0.00	0	A	NM_000720		53757826	53757826	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	183	28.24	72	SNP	1.000	G
CACNG4	27092	genome.wustl.edu	37	17	65026894	65026894	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:65026894C>T	ENST00000262138.3	+	4	760	c.758C>T	c.(757-759)tCg>tTg	p.S253L	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	253					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCGAGGCCTCGCCCTCCAGG	0.632																																						dbGAP											0													57.0	56.0	57.0					17																	65026894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.758C>T	17.37:g.65026894C>T	ENSP00000262138:p.Ser253Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCK0	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin	p.S253L	ENST00000262138.3	37	c.758	CCDS11667.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711715	0.89112	.	.	ENSG00000075461	ENST00000262138	T	0.57595	0.39	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000005	T	0.58206	0.2106	M	0.65975	2.015	0.54753	D	0.999983	D	0.56968	0.978	P	0.45681	0.49	T	0.62248	-0.6894	10	0.42905	T	0.14	-15.2284	18.7131	0.91666	0.0:1.0:0.0:0.0	.	253	Q9UBN1	CCG4_HUMAN	L	253	ENSP00000262138:S253L	ENSP00000262138:S253L	S	+	2	0	CACNG4	62457356	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.647000	0.67923	2.427000	0.82271	0.650000	0.86243	TCG	CACNG4	-	NULL	ENSG00000075461		0.632	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG4	HGNC	protein_coding	OTTHUMT00000447036.1	37	0.00	0	C	NM_014405		65026894	65026894	+1	no_errors	ENST00000262138	ensembl	human	known	69_37n	missense	43	20.37	11	SNP	1.000	T
CATSPERD	257062	genome.wustl.edu	37	19	5724831	5724831	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr19:5724831G>A	ENST00000381624.3	+	2	145	c.84G>A	c.(82-84)gtG>gtA	p.V28V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	28					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCGCACAGTGAGGACAGGAA	0.413																																						dbGAP											0													210.0	193.0	198.0					19																	5724831		1911	4133	6044	-	-	-	SO:0001819	synonymous_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.84G>A	19.37:g.5724831G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.V28	ENST00000381624.3	37	c.84	CCDS12149.2	19																																																																																			CATSPERD	-	NULL	ENSG00000174898		0.413	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	225	0.00	0	G	NM_152784		5724831	5724831	+1	no_errors	ENST00000381624	ensembl	human	known	69_37n	silent	146	27.00	54	SNP	0.991	A
CDH1	999	genome.wustl.edu	37	16	68772203	68772204	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr16:68772203_68772204insCA	ENST00000261769.5	+	2	243_244	c.52_53insCA	c.(52-54)tccfs	p.S18fs	CDH1_ENST00000422392.2_Frame_Shift_Ins_p.S18fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	18					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.V17fs*1(3)|p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACCCCAGGTCTCCTCTTGGCTC	0.688			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	5	Deletion - Frameshift(3)|Unknown(2)	breast(5)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	Exception_encountered	16.37:g.68772203_68772204insCA	ENSP00000261769:p.Ser18fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S19fs	ENST00000261769.5	37	c.52_53	CCDS10869.1	16																																																																																			CDH1	-	NULL	ENSG00000039068		0.688	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	50	0.00	0	-	NM_004360		68772203	68772204	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	12	42.86	9	INS	0.327:0.321	CA
CHST2	9435	genome.wustl.edu	37	3	142840752	142840752	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:142840752G>A	ENST00000309575.3	+	2	2478	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	365					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CGAGCTCACCGCATGCCCTTC	0.697																																						dbGAP											0													21.0	25.0	24.0					3																	142840752		2200	4294	6494	-	-	-	SO:0001583	missense	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1094G>A	3.37:g.142840752G>A	ENSP00000307911:p.Arg365His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.R365H	ENST00000309575.3	37	c.1094	CCDS3129.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128715	0.77549	.	.	ENSG00000175040	ENST00000309575	D	0.97455	-4.39	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.165372	0.39146	N	0.001444	D	0.98213	0.9409	M	0.78801	2.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	D	0.99044	1.0825	10	0.62326	D	0.03	-0.3534	17.3237	0.87242	0.0:0.0:1.0:0.0	.	365	Q9Y4C5	CHST2_HUMAN	H	365	ENSP00000307911:R365H	ENSP00000307911:R365H	R	+	2	0	CHST2	144323442	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.600000	0.82769	2.322000	0.78497	0.407000	0.27541	CGC	CHST2	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000175040		0.697	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	HGNC	protein_coding	OTTHUMT00000354850.1	12	0.00	0	G	NM_004267		142840752	142840752	+1	no_errors	ENST00000309575	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	1.000	A
CMYA5	202333	genome.wustl.edu	37	5	79095305	79095305	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:79095305G>C	ENST00000446378.2	+	13	12107	c.12076G>C	c.(12076-12078)Gag>Cag	p.E4026Q	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4026	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATCAACGCAGAGAGCGAGCA	0.507																																						dbGAP											0													141.0	137.0	139.0					5																	79095305		2030	4189	6219	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.12076G>C	5.37:g.79095305G>C	ENSP00000394770:p.Glu4026Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E4026Q	ENST00000446378.2	37	c.12076	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150043	0.21371	.	.	ENSG00000164309	ENST00000446378	T	0.15256	2.44	6.17	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	P	0.39809	0.689	B	0.32805	0.153	T	0.10567	-1.0624	9	0.66056	D	0.02	.	17.4794	0.87669	0.0:0.4777:0.5223:0.0	.	4026	Q8N3K9	CMYA5_HUMAN	Q	4026	ENSP00000394770:E4026Q	ENSP00000394770:E4026Q	E	+	1	0	CMYA5	79131061	0.998000	0.40836	0.002000	0.10522	0.001000	0.01503	3.138000	0.50570	0.916000	0.36871	-0.175000	0.13238	GAG	CMYA5	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000164309		0.507	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	192	0.00	0	G	NM_153610		79095305	79095305	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	129	30.65	57	SNP	0.005	C
CTCFL	140690	genome.wustl.edu	37	20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr20:56094287G>A	ENST00000608263.1	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	301					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453																																						dbGAP											0													95.0	95.0	95.0					20																	56094287		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.901C>T	20.37:g.56094287G>A	ENSP00000476783:p.Arg301Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R301W	ENST00000608263.1	37	c.901	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238725	0.39598	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.25	0.582	0.17412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001079	T	0.25531	0.0621	M	0.69523	2.12	0.38434	D	0.946527	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.10847	-1.0612	10	0.72032	D	0.01	-42.7671	14.3281	0.66534	0.0:0.0:0.3805:0.6195	.	301;301;301;301;301;301;301;301	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	W	301;301;301;301;301;39;301;301;301;96;301	ENSP00000415579:R301W;ENSP00000243914:R301W;ENSP00000360239:R301W;ENSP00000415329:R301W;ENSP00000392034:R301W;ENSP00000437999:R39W;ENSP00000413713:R301W;ENSP00000403369:R301W;ENSP00000409344:R301W;ENSP00000439998:R96W;ENSP00000399061:R301W	ENSP00000243914:R301W	R	-	1	2	CTCFL	55527693	0.611000	0.26992	0.073000	0.20177	0.072000	0.16883	0.855000	0.27805	0.255000	0.21593	-0.293000	0.09583	CGG	CTCFL	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124092		0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	134	0.00	0	G	NM_080618		56094287	56094287	-1	no_errors	ENST00000423479	ensembl	human	known	69_37n	missense	93	21.19	25	SNP	0.969	A
CWH43	80157	genome.wustl.edu	37	4	49030703	49030703	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:49030703G>A	ENST00000226432.4	+	10	1507	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	CWH43_ENST00000513409.1_Missense_Mutation_p.E415K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	442					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATATGACAATGAAGGGTGGTC	0.413																																						dbGAP											0													99.0	93.0	95.0					4																	49030703		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1324G>A	4.37:g.49030703G>A	ENSP00000226432:p.Glu442Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.E442K	ENST00000226432.4	37	c.1324	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253674	0.59212	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29655	1.56;1.56	4.72	4.72	0.59763	.	0.094992	0.45361	D	0.000363	T	0.20536	0.0494	N	0.17082	0.46	0.46356	D	0.999001	B	0.19583	0.037	B	0.21151	0.033	T	0.05131	-1.0904	9	.	.	.	.	16.4187	0.83751	0.0:0.0:1.0:0.0	.	442	Q9H720	PG2IP_HUMAN	K	442;415	ENSP00000226432:E442K;ENSP00000422802:E415K	.	E	+	1	0	CWH43	48725460	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.980000	0.70516	2.634000	0.89283	0.462000	0.41574	GAA	CWH43	-	NULL	ENSG00000109182		0.413	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	152	0.00	0	G	NM_025087		49030703	49030703	+1	no_errors	ENST00000226432	ensembl	human	known	69_37n	missense	98	29.50	41	SNP	1.000	A
DDX3X	1654	genome.wustl.edu	37	X	41202029	41202029	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:41202029G>A	ENST00000399959.2	+	6	1338	c.483G>A	c.(481-483)gaG>gaA	p.E161E	DDX3X_ENST00000542215.1_Silent_p.E205E|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Silent_p.E145E|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	161	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTAATTTTGAGAAATACGATG	0.373										HNSCC(61;0.18)																												dbGAP											0													114.0	100.0	105.0					X																	41202029		1977	4170	6147	-	-	-	SO:0001819	synonymous_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.483G>A	X.37:g.41202029G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K538|B4E3E8|O15536	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E161	ENST00000399959.2	37	c.483	CCDS43931.1	X																																																																																			DDX3X	-	NULL	ENSG00000215301		0.373	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	207	0.00	0	G	NM_024005		41202029	41202029	+1	no_errors	ENST00000399959	ensembl	human	known	69_37n	silent	119	33.52	60	SNP	1.000	A
DMRT1	1761	genome.wustl.edu	37	9	847104	847104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr9:847104C>T	ENST00000382276.3	+	2	648	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	DMRT1_ENST00000569227.1_Nonsense_Mutation_p.Q9*	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	167					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGGCACCTCTCAGCCACCGCC	0.622																																						dbGAP											0													50.0	44.0	46.0					9																	847104		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.499C>T	9.37:g.847104C>T	ENSP00000371711:p.Gln167*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Nonsense_Mutation	SNP	pfam_DM_DNA-bd,pfam_TF_doublesex/Mab3-rel,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.Q167*	ENST00000382276.3	37	c.499	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.219431	0.95139	.	.	ENSG00000137090	ENST00000382276	.	.	.	4.27	4.27	0.50696	.	1.441650	0.04171	N	0.324722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.6656	0.68904	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000371711:Q167X	Q	+	1	0	DMRT1	837104	0.994000	0.37717	0.768000	0.31515	0.426000	0.31534	4.166000	0.58203	2.222000	0.72286	0.655000	0.94253	CAG	DMRT1	-	pfam_TF_doublesex/Mab3-rel	ENSG00000137090		0.622	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	30	0.00	0	C	NM_021951		847104	847104	+1	no_errors	ENST00000382276	ensembl	human	known	69_37n	nonsense	32	41.82	23	SNP	0.783	T
DNAH5	1767	genome.wustl.edu	37	5	13752344	13752344	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:13752344G>C	ENST00000265104.4	-	64	11031	c.10927C>G	c.(10927-10929)Ctt>Gtt	p.L3643V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3643	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCCTTCCAAGAGAAAGGCTG	0.398									Kartagener syndrome																													dbGAP											0													144.0	130.0	135.0					5																	13752344		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10927C>G	5.37:g.13752344G>C	ENSP00000265104:p.Leu3643Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3643V	ENST00000265104.4	37	c.10927	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556776	0.86231	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	M	0.71920	2.185	0.80722	D	1	P	0.43701	0.815	P	0.58620	0.842	T	0.07252	-1.0782	10	0.49607	T	0.09	.	15.3558	0.74425	0.0686:0.0:0.9314:0.0	.	3643	Q8TE73	DYH5_HUMAN	V	3643	ENSP00000265104:L3643V	ENSP00000265104:L3643V	L	-	1	0	DNAH5	13805344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.134000	0.71689	2.865000	0.98341	0.655000	0.94253	CTT	DNAH5	-	NULL	ENSG00000039139		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	204	0.00	0	G	NM_001369		13752344	13752344	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	175	30.00	75	SNP	1.000	C
DNAH6	1768	genome.wustl.edu	37	2	84777043	84777043	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr2:84777043G>C	ENST00000237449.6	+	8	1355	c.1347G>C	c.(1345-1347)gaG>gaC	p.E449D	DNAH6_ENST00000398278.2_Missense_Mutation_p.E449D|DNAH6_ENST00000389394.3_Missense_Mutation_p.E449D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	449	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCTAATTGAGAACACAATGC	0.328																																						dbGAP											0													86.0	79.0	81.0					2																	84777043		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1347G>C	2.37:g.84777043G>C	ENSP00000237449:p.Glu449Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E449D	ENST00000237449.6	37	c.1347	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830317	0.50845	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24538	1.85;1.98;1.85	6.02	5.14	0.70334	.	0.506811	0.17969	N	0.155938	T	0.19127	0.0459	N	0.22421	0.69	0.29216	N	0.874255	B;B	0.23990	0.009;0.095	B;B	0.20184	0.028;0.023	T	0.08554	-1.0716	10	0.34782	T	0.22	.	14.0783	0.64905	0.0728:0.0:0.9272:0.0	.	449;28	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	D	449	ENSP00000374045:E449D;ENSP00000381326:E449D;ENSP00000237449:E449D	ENSP00000237449:E449D	E	+	3	2	DNAH6	84630554	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.066000	0.57520	1.560000	0.49568	0.650000	0.86243	GAG	DNAH6	-	NULL	ENSG00000115423		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	116	0.00	0	G	NM_001370		84777043	84777043	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	75	28.57	30	SNP	1.000	C
AGO2	27161	genome.wustl.edu	37	8	141570514	141570514	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr8:141570514G>A	ENST00000220592.5	-	5	726	c.614C>T	c.(613-615)tCc>tTc	p.S205F	AGO2_ENST00000519980.1_Missense_Mutation_p.S205F	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	205					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AGGCCGGACGGACTGATGGAA	0.612																																						dbGAP											0													87.0	85.0	86.0					8																	141570514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.614C>T	8.37:g.141570514G>A	ENSP00000220592:p.Ser205Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.S205F	ENST00000220592.5	37	c.614	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967956	0.92855	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.14893	2.47;2.47	5.02	5.02	0.67125	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77827	-0.2443	10	0.87932	D	0	-1.154	18.7056	0.91637	0.0:0.0:1.0:0.0	.	205;205	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	F	205	ENSP00000220592:S205F;ENSP00000430176:S205F	ENSP00000220592:S205F	S	-	2	0	EIF2C2	141639696	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.644000	0.98468	2.495000	0.84180	0.655000	0.94253	TCC	EIF2C2	-	pfam_DUF1785,superfamily_PAZ	ENSG00000123908		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	71	0.00	0	G			141570514	141570514	-1	no_errors	ENST00000220592	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	1.000	A
EMR2	30817	genome.wustl.edu	37	19	14884796	14884796	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr19:14884796G>T	ENST00000315576.3	-	4	604	c.153C>A	c.(151-153)ttC>ttA	p.F51L	EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.F51L|EMR2_ENST00000392965.3_Missense_Mutation_p.F51L|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000594076.1_Missense_Mutation_p.F51L|EMR2_ENST00000353005.1_Missense_Mutation_p.F51L|EMR2_ENST00000595839.1_Missense_Mutation_p.F51L|EMR2_ENST00000392967.2_Missense_Mutation_p.F51L|EMR2_ENST00000601345.1_Missense_Mutation_p.F51L|EMR2_ENST00000596991.2_Missense_Mutation_p.F51L|EMR2_ENST00000353876.1_Missense_Mutation_p.F51L|EMR2_ENST00000594294.1_Missense_Mutation_p.F51L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	51	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AAAAAGAGCTGAACCCTGGAT	0.592																																						dbGAP											0													134.0	124.0	127.0					19																	14884796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.153C>A	19.37:g.14884796G>T	ENSP00000319883:p.Phe51Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F51L	ENST00000315576.3	37	c.153	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166941	0.57476	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T;T;D	0.88046	-1.1;-1.23;-0.68;-0.02;0.45;-1.44;-2.33	3.87	2.82	0.32997	.	.	.	.	.	D	0.91606	0.7348	M	0.74258	2.255	0.18873	N	0.999983	D;D;D;B;D;D;D	0.89917	0.999;1.0;0.997;0.433;0.998;1.0;1.0	P;D;P;B;D;D;D	0.75020	0.81;0.979;0.85;0.156;0.982;0.965;0.985	T	0.81839	-0.0748	9	0.72032	D	0.01	.	8.0948	0.30822	0.1206:0.0:0.8794:0.0	.	51;51;51;51;51;51;51	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	L	51	ENSP00000319883:F51L;ENSP00000376694:F51L;ENSP00000263380:F51L;ENSP00000319454:F51L;ENSP00000319838:F51L;ENSP00000376692:F51L;ENSP00000376689:F51L	ENSP00000319883:F51L	F	-	3	2	EMR2	14745796	0.379000	0.25123	0.057000	0.19452	0.034000	0.12701	1.298000	0.33412	0.924000	0.37069	0.398000	0.26397	TTC	EMR2	-	smart_EGF-like	ENSG00000127507		0.592	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	192	0.00	0	G			14884796	14884796	-1	no_errors	ENST00000315576	ensembl	human	known	69_37n	missense	123	31.28	56	SNP	0.444	T
FLJ40288	286023	genome.wustl.edu	37	7	132412276	132412276	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr7:132412276C>G	ENST00000332558.4	+	5	746	c.128C>G	c.(127-129)tCt>tGt	p.S43C																								TATCTTCATTCTGAGCTGGCT	0.532																																						dbGAP											0													66.0	62.0	63.0					7																	132412276		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000332558.4:c.128C>G	7.37:g.132412276C>G	ENSP00000331939:p.Ser43Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S43C	ENST00000332558.4	37	c.128		7	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909728	0.52439	.	.	ENSG00000183470	ENST00000332558	.	.	.	6.17	5.12	0.69794	.	0.000000	0.36167	N	0.002757	T	0.66036	0.2749	.	.	.	.	.	.	.	.	.	.	.	.	T	0.75411	-0.3327	5	0.87932	D	0	-10.3793	11.3007	0.49304	0.0:0.9068:0.0:0.0932	.	.	.	.	C	43	.	ENSP00000331939:S43C	S	+	2	0	AC009365.3	132062816	0.882000	0.30256	0.973000	0.42090	0.841000	0.47740	1.473000	0.35387	2.941000	0.99782	0.655000	0.94253	TCT	AC009365.3	-	NULL	ENSG00000183470		0.532	AC009365.3-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000183470	Clone_based_vega_gene	protein_coding	OTTHUMT00000318676.5	122	0.00	0	C			132412276	132412276	+1	no_errors	ENST00000332558	ensembl	human	putative	69_37n	missense	100	28.57	40	SNP	0.890	G
MT-CYB	4519	genome.wustl.edu	37	M	14709	14709	+	5'Flank	SNP	T	T	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrM:14709T>C	ENST00000361789.2	+	0	0				MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GACCAATGATATGAAAAACCA	0.383																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156			M.37:g.14709T>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	RNA	SNP	-	NULL	ENST00000361789.2	37	NULL		MT																																																																																			J01415.21	-	-	ENSG00000210194		0.383	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210194	Clone_based_ensembl_gene	protein_coding		530	0.19	1	T	YP_003024038		14709	14709	-1	no_errors	ENST00000387459	ensembl	human	known	69_37n	rna	155	70.90	380	SNP	NULL	C
MYOCD	93649	genome.wustl.edu	37	17	12663849	12663850	+	Intron	INS	-	-	A	rs74445886		TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:12663849_12663850insA	ENST00000343344.4	+	12	2187				RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Intron			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		gccacaattggaaaaaAAAATA	0.347																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2188-117->A	17.37:g.12663858_12663858dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	RNA	INS	-	NULL	ENST00000343344.4	37	NULL	CCDS11163.1	17																																																																																			RP11-1090M7.1	-	-	ENSG00000265489		0.347	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265489	Clone_based_vega_gene	protein_coding	OTTHUMT00000129950.1	43	0.00	0	-	NM_153604		12663849	12663850	-1	no_errors	ENST00000584772	ensembl	human	known	69_37n	rna	22	12.00	3	INS	0.002:0.001	A
EYS	346007	genome.wustl.edu	37	6	65301057	65301057	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr6:65301057C>T	ENST00000370621.3	-	26	5229	c.4703G>A	c.(4702-4704)cGt>cAt	p.R1568H	EYS_ENST00000370616.2_Missense_Mutation_p.R1568H|EYS_ENST00000503581.1_Missense_Mutation_p.R1568H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1568					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGAGAATTCACGAGAGGATTT	0.393																																						dbGAP											0													37.0	32.0	34.0					6																	65301057		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4703G>A	6.37:g.65301057C>T	ENSP00000359655:p.Arg1568His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1568H	ENST00000370621.3	37	c.4703		6	.	.	.	.	.	.	.	.	.	.	C	0.746	-0.774683	0.02951	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84800	-1.9;-1.88;-1.88	5.84	2.17	0.27698	.	.	.	.	.	T	0.49167	0.1541	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26395	-1.0104	9	0.21014	T	0.42	.	8.2979	0.31997	0.0:0.2218:0.0:0.7782	.	1568;1568	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	1568	ENSP00000424243:R1568H;ENSP00000359655:R1568H;ENSP00000359650:R1568H	ENSP00000359650:R1568H	R	-	2	0	EYS	65357778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.338000	0.33873	0.152000	0.19188	-0.312000	0.09012	CGT	EYS	-	NULL	ENSG00000188107		0.393	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	29	0.00	0	C	XM_294050		65301057	65301057	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	1.000	T
AMER1	139285	genome.wustl.edu	37	X	63409936	63409936	+	Silent	SNP	A	A	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:63409936A>G	ENST00000330258.3	-	2	3503	c.3231T>C	c.(3229-3231)ccT>ccC	p.P1077P	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1077	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TGATGCCCACAGGCTTGGCCT	0.627																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											15.0	18.0	17.0					X																	63409936		1985	4158	6143	-	-	-	SO:0001819	synonymous_variant	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3231T>C	X.37:g.63409936A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.P1077	ENST00000330258.3	37	c.3231	CCDS14377.2	X																																																																																			FAM123B	-	NULL	ENSG00000184675		0.627	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	34	0.00	0	A	NM_152424		63409936	63409936	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	silent	33	29.79	14	SNP	1.000	G
FAM188A	80013	genome.wustl.edu	37	10	15858876	15858876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr10:15858876C>T	ENST00000277632.3	-	10	1060	c.840G>A	c.(838-840)tgG>tgA	p.W280*	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	280					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGCCAACAATCCAAATAGGGA	0.308																																					Pancreas(159;946 1953 2111 4475 22008)	dbGAP											0													70.0	73.0	72.0					10																	15858876		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.840G>A	10.37:g.15858876C>T	ENSP00000277632:p.Trp280*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Nonsense_Mutation	SNP	NULL	p.W280*	ENST00000277632.3	37	c.840	CCDS7110.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.860546	0.97893	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6603	19.0305	0.92955	0.0:1.0:0.0:0.0	.	.	.	.	X	280;120;133	.	ENSP00000277632:W280X	W	-	3	0	FAM188A	15898882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.901000	0.75693	2.861000	0.98227	0.655000	0.94253	TGG	FAM188A	-	NULL	ENSG00000148481		0.308	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188A	HGNC	protein_coding	OTTHUMT00000046990.2	111	0.00	0	C	NM_024948		15858876	15858876	-1	no_errors	ENST00000277632	ensembl	human	known	69_37n	nonsense	75	23.23	23	SNP	1.000	T
FAM60A	58516	genome.wustl.edu	37	12	31451107	31451107	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:31451107C>T	ENST00000337682.4	-	2	400	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Missense_Mutation_p.R11Q|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000542983.1_Intron	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	11					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CTCTATACTTCGGTACATCTT	0.428																																						dbGAP											0													99.0	92.0	94.0					12																	31451107		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.32G>A	12.37:g.31451107C>T	ENSP00000337477:p.Arg11Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUV8|Q9BSZ8	Missense_Mutation	SNP	NULL	p.R11Q	ENST00000337682.4	37	c.32	CCDS8723.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561322	0.86335	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.979;0.997	D	0.84115	0.0403	10	0.87932	D	0	-11.2912	18.1981	0.89829	0.0:1.0:0.0:0.0	.	11;52	Q9NP50;B7Z287	FA60A_HUMAN;.	Q	11;11;52;11;11	ENSP00000337477:R11Q;ENSP00000393279:R11Q;ENSP00000443881:R11Q;ENSP00000437363:R11Q	ENSP00000337477:R11Q	R	-	2	0	FAM60A	31342374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	2.350000	0.79820	0.655000	0.94253	CGA	FAM60A	-	NULL	ENSG00000139146		0.428	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM60A	HGNC	protein_coding	OTTHUMT00000400347.1	97	0.00	0	C	NM_021238		31451107	31451107	-1	no_errors	ENST00000337682	ensembl	human	known	69_37n	missense	60	36.17	34	SNP	1.000	T
FLII	2314	genome.wustl.edu	37	17	18157406	18157406	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:18157406C>T	ENST00000327031.4	-	7	891	c.666G>A	c.(664-666)ctG>ctA	p.L222L	FLII_ENST00000379450.4_Silent_p.L137L|FLII_ENST00000579294.1_Silent_p.L211L|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000578558.1_Silent_p.L222L|FLII_ENST00000545457.2_Silent_p.L168L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	222	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CGAGGTTGCTCAGACCCTCCA	0.682																																						dbGAP											0													27.0	28.0	28.0					17																	18157406		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.666G>A	17.37:g.18157406C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIL0|F5H407|J3QLG3	Silent	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.L222	ENST00000327031.4	37	c.666	CCDS11192.1	17																																																																																			FLII	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000177731		0.682	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	34	0.00	0	C	NM_002018		18157406	18157406	-1	no_errors	ENST00000327031	ensembl	human	known	69_37n	silent	39	50.63	40	SNP	1.000	T
FKBP10	60681	genome.wustl.edu	37	17	39977965	39977965	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:39977965G>A	ENST00000321562.4	+	9	1563	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	FKBP10_ENST00000544340.1_Missense_Mutation_p.D260N	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	487					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GTCCCGGGAGGATGGGCTGCC	0.627																																						dbGAP											0													153.0	135.0	141.0					17																	39977965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1459G>A	17.37:g.39977965G>A	ENSP00000317232:p.Asp487Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.D487N	ENST00000321562.4	37	c.1459	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091636	0.55968	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340	T;T	0.54071	0.59;0.59	5.42	5.42	0.78866	.	0.378221	0.25804	N	0.028182	T	0.38799	0.1054	N	0.13098	0.295	0.31559	N	0.657743	P;B	0.42827	0.791;0.023	B;B	0.41860	0.368;0.029	T	0.41805	-0.9488	10	0.26408	T	0.33	-28.4087	15.5729	0.76354	0.0:0.138:0.862:0.0	.	260;487	Q9H6J3;Q96AY3	.;FKB10_HUMAN	N	375;487;487;260	ENSP00000317232:D487N;ENSP00000442009:D260N	ENSP00000269598:D375N	D	+	1	0	FKBP10	37231491	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.140000	0.58031	2.550000	0.86006	0.455000	0.32223	GAT	FKBP10	-	NULL	ENSG00000141756		0.627	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	213	0.00	0	G	NM_021939		39977965	39977965	+1	no_errors	ENST00000321562	ensembl	human	known	69_37n	missense	563	11.62	74	SNP	1.000	A
FOXA1	3169	genome.wustl.edu	37	14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667																																						dbGAP											0													33.0	31.0	32.0					14																	38061250		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.739C>T	14.37:g.38061250G>A	ENSP00000250448:p.His247Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.H247Y	ENST00000250448.2	37	c.739	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459017	0.84317	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95588	-3.75;-3.75	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98816	1.0745	10	0.87932	D	0	.	15.0053	0.71507	0.0:0.0:1.0:0.0	.	247	P55317	FOXA1_HUMAN	Y	247;214	ENSP00000250448:H247Y;ENSP00000440178:H214Y	ENSP00000250448:H247Y	H	-	1	0	FOXA1	37131001	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.683000	0.84093	2.057000	0.61298	0.400000	0.26472	CAC	FOXA1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000129514		0.667	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	54	0.00	0	G			38061250	38061250	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	A
FSTL5	56884	genome.wustl.edu	37	4	163032438	163032438	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:163032438C>T	ENST00000306100.5	-	2	547	c.111G>A	c.(109-111)atG>atA	p.M37I	FSTL5_ENST00000379164.4_Missense_Mutation_p.M37I|FSTL5_ENST00000427802.2_Missense_Mutation_p.M37I|FSTL5_ENST00000536695.1_Missense_Mutation_p.M37I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	37						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTCGCAATCTCATTAGAGGCT	0.403																																						dbGAP											0													181.0	175.0	177.0					4																	163032438		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.111G>A	4.37:g.163032438C>T	ENSP00000305334:p.Met37Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.M37I	ENST00000306100.5	37	c.111	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	5.472	0.272092	0.10349	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.70516	-0.48;-0.45;-0.49;-0.45	5.51	-2.68	0.06041	.	0.618750	0.15694	N	0.249268	T	0.37517	0.1006	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37820	-0.9689	10	0.02654	T	1	.	6.5372	0.22361	0.0:0.4155:0.1393:0.4452	.	37;37;37	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	37	ENSP00000305334:M37I;ENSP00000368462:M37I;ENSP00000389270:M37I;ENSP00000440409:M37I	ENSP00000305334:M37I	M	-	3	0	FSTL5	163251888	0.266000	0.24112	0.097000	0.21041	0.939000	0.58152	-0.037000	0.12164	-0.344000	0.08338	-0.482000	0.04802	ATG	FSTL5	-	NULL	ENSG00000168843		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	146	0.00	0	C	NM_020116		163032438	163032438	-1	no_errors	ENST00000306100	ensembl	human	known	69_37n	missense	79	35.25	43	SNP	0.167	T
GDF9	2661	genome.wustl.edu	37	5	132197896	132197896	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:132197896C>G	ENST00000378673.2	-	3	1616	c.750G>C	c.(748-750)caG>caC	p.Q250H	GDF9_ENST00000296875.2_Missense_Mutation_p.Q250H|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	250					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAAACCATTCTGTGCTGAAG	0.428																																						dbGAP											0													100.0	99.0	99.0					5																	132197896		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.750G>C	5.37:g.132197896C>G	ENSP00000367942:p.Gln250His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.Q250H	ENST00000378673.2	37	c.750	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398080	0.25205	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.80994	-1.44;-1.44	6.04	2.21	0.28008	.	0.907861	0.09762	N	0.759087	T	0.80859	0.4704	M	0.80616	2.505	0.09310	N	1	P	0.51240	0.943	P	0.47645	0.553	T	0.67405	-0.5679	10	0.35671	T	0.21	.	2.7679	0.05325	0.1318:0.5407:0.1274:0.2002	.	250	O60383	GDF9_HUMAN	H	250	ENSP00000367942:Q250H;ENSP00000296875:Q250H	ENSP00000296875:Q250H	Q	-	3	2	GDF9	132225795	0.010000	0.17322	0.000000	0.03702	0.019000	0.09904	1.020000	0.30027	0.417000	0.25871	0.650000	0.86243	CAG	GDF9	-	NULL	ENSG00000164404		0.428	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	147	0.00	0	C	NM_005260		132197896	132197896	-1	no_errors	ENST00000296875	ensembl	human	known	69_37n	missense	166	25.23	56	SNP	0.000	G
GPS2	2874	genome.wustl.edu	37	17	7217617	7217617	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:7217617delC	ENST00000380728.2	-	4	610	c.310delG	c.(310-312)gaafs	p.E104fs	RP11-542C16.2_ENST00000575474.1_3'UTR|NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000391950.3_Frame_Shift_Del_p.E104fs|GPS2_ENST00000389167.5_Frame_Shift_Del_p.E104fs			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	104					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CACCTCTGTTCCTTTCGCCTC	0.458																																						dbGAP											0													168.0	160.0	162.0					17																	7217617		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.310delG	17.37:g.7217617delC	ENSP00000370104:p.Glu104fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXA1|Q6FHM8	Frame_Shift_Del	DEL	NULL	p.E104fs	ENST00000380728.2	37	c.310	CCDS11100.1	17																																																																																			GPS2	-	NULL	ENSG00000132522		0.458	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	511	0.00	0	C	NM_004489		7217617	7217617	-1	no_errors	ENST00000380728	ensembl	human	known	69_37n	frame_shift_del	169	41.24	120	DEL	1.000	-
GRM2	2912	genome.wustl.edu	37	3	51743248	51743248	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:51743248C>T	ENST00000395052.3	+	2	483	c.249C>T	c.(247-249)cgC>cgT	p.R83R	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.R83R	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	83					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGGCGTGCGCCTGGGTGCAC	0.622																																						dbGAP											0													137.0	122.0	127.0					3																	51743248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.249C>T	3.37:g.51743248C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R83	ENST00000395052.3	37	c.249	CCDS2834.1	3																																																																																			GRM2	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3	ENSG00000164082		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	36	0.00	0	C			51743248	51743248	+1	no_errors	ENST00000395052	ensembl	human	known	69_37n	silent	36	35.71	20	SNP	0.998	T
MROH1	727957	genome.wustl.edu	37	8	145255363	145255363	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr8:145255363C>T	ENST00000528919.1	+	11	1181	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	MROH1_ENST00000326134.5_Silent_p.L354L|MROH1_ENST00000398656.4_Silent_p.L354L|MROH1_ENST00000527071.1_3'UTR|MROH1_ENST00000534366.1_Silent_p.L354L|MROH1_ENST00000423230.2_Silent_p.L354L	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	354																	ACTGGCCTTCCTGCTGCCCAG	0.587																																						dbGAP											0													45.0	51.0	49.0					8																	145255363		2023	4103	6126	-	-	-	SO:0001819	synonymous_variant	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1060C>T	8.37:g.145255363C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L354	ENST00000528919.1	37	c.1060	CCDS47938.1	8																																																																																			HEATR7A	-	superfamily_ARM-type_fold	ENSG00000179832		0.587	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HEATR7A	HGNC	protein_coding	OTTHUMT00000386183.1	73	0.00	0	C	NM_032450		145255363	145255363	+1	no_errors	ENST00000326134	ensembl	human	known	69_37n	silent	62	35.42	34	SNP	0.991	T
HPS1	3257	genome.wustl.edu	37	10	100191027	100191027	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr10:100191027G>A	ENST00000325103.6	-	7	762	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000361490.4_Missense_Mutation_p.P177S|HPS1_ENST00000338546.5_Missense_Mutation_p.P177S|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	177					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CAGAGCTGGGGGTGAATCAGT	0.637									Hermansky-Pudlak syndrome																													dbGAP											0													34.0	33.0	34.0					10																	100191027		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.529C>T	10.37:g.100191027G>A	ENSP00000326649:p.Pro177Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	NULL	p.P177S	ENST00000325103.6	37	c.529	CCDS7475.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.730360|4.730360	0.89390|0.89390	.|.	.|.	ENSG00000107521|ENSG00000107521	ENST00000414009|ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632;ENST00000338546	.|T;T;T;T	.|0.68765	.|1.63;1.63;-0.35;1.63	5.3|5.3	4.38|4.38	0.52667|0.52667	.|.	0.047992|0.047992	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79701|0.79701	0.4491|0.4491	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.67145	.|0.935;0.994;0.935;0.996	.|P;P;P;D	.|0.63283	.|0.731;0.731;0.731;0.913	T|T	0.82061|0.82061	-0.0644|-0.0644	6|10	.|0.56958	.|D	.|0.05	.|.	15.7984|15.7984	0.78433|0.78433	0.0:0.1362:0.8637:0.0|0.0:0.1362:0.8637:0.0	.|.	.|177;177;177;177	.|Q92902;Q92902-3;Q8WXE5;D3DR62	.|HPS1_HUMAN;.;.;.	L|S	44|177;177;177;5;177	.|ENSP00000326649:P177S;ENSP00000355310:P177S;ENSP00000352652:P5S;ENSP00000343638:P177S	.|ENSP00000326649:P177S	P|P	-|-	2|1	0|0	HPS1|HPS1	100181017|100181017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.396000|7.396000	0.79891|0.79891	1.208000|1.208000	0.43306|0.43306	0.561000|0.561000	0.74099|0.74099	CCC|CCC	HPS1	-	NULL	ENSG00000107521		0.637	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	34	0.00	0	G	NM_000195, NM_182637, NM_182638, NM_182639		100191027	100191027	-1	no_errors	ENST00000325103	ensembl	human	known	69_37n	missense	18	50.00	18	SNP	1.000	A
HRC	3270	genome.wustl.edu	37	19	49657744	49657744	+	Missense_Mutation	SNP	C	C	T	rs555119928|rs146243739	byFrequency	TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr19:49657744C>T	ENST00000252825.4	-	1	937	c.751G>A	c.(751-753)Gat>Aat	p.D251N	HRC_ENST00000595625.1_Missense_Mutation_p.D251N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	251	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcatcatcatcatcatcatcg	0.488																																					Melanoma(37;75 1097 24567 25669 30645)	dbGAP											0													143.0	102.0	116.0					19																	49657744		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.751G>A	19.37:g.49657744C>T	ENSP00000252825:p.Asp251Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.D251N	ENST00000252825.4	37	c.751	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	N	12.42	1.932829	0.34096	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.34859	1.34	1.08	1.08	0.20341	.	.	.	.	.	T	0.40398	0.1115	M	0.64997	1.995	0.20638	N	0.999873	P	0.49253	0.921	P	0.51945	0.685	T	0.19778	-1.0295	9	0.25106	T	0.35	.	5.5698	0.17190	0.0:1.0:0.0:0.0	.	251	P23327	SRCH_HUMAN	N	251;221	ENSP00000252825:D251N	ENSP00000252825:D251N	D	-	1	0	HRC	54349556	0.000000	0.05858	0.043000	0.18650	0.175000	0.22909	-0.574000	0.05868	0.903000	0.36546	0.379000	0.24179	GAT	HRC	-	pfam_Hist_rich_Ca-bd	ENSG00000130528		0.488	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	165	0.00	0	C	NM_002152		49657744	49657744	-1	no_errors	ENST00000252825	ensembl	human	known	69_37n	missense	126	32.45	61	SNP	0.685	T
HRC	3270	genome.wustl.edu	37	19	49657822	49657822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr19:49657822C>A	ENST00000252825.4	-	1	859	c.673G>T	c.(673-675)Gag>Tag	p.E225*	HRC_ENST00000595625.1_Nonsense_Mutation_p.E225*	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	225	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAGACATCCTCATCCTCTTCA	0.547																																					Melanoma(37;75 1097 24567 25669 30645)	dbGAP											0													127.0	88.0	101.0					19																	49657822		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.673G>T	19.37:g.49657822C>A	ENSP00000252825:p.Glu225*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504Y6	Nonsense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E225*	ENST00000252825.4	37	c.673	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	c	28.4	4.916867	0.92249	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-1.0851	6.5953	0.22669	0.0:0.8567:0.0:0.1432	.	.	.	.	X	225;195	.	ENSP00000252825:E225X	E	-	1	0	HRC	54349634	0.008000	0.16893	0.626000	0.29213	0.040000	0.13550	0.800000	0.27042	1.613000	0.50231	0.457000	0.33378	GAG	HRC	-	pfam_Hist_rich_Ca-bd	ENSG00000130528		0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	126	0.00	0	C	NM_002152		49657822	49657822	-1	no_errors	ENST00000252825	ensembl	human	known	69_37n	nonsense	123	22.15	35	SNP	0.972	A
HSF1	3297	genome.wustl.edu	37	8	145537880	145537880	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr8:145537880G>A	ENST00000528838.1	+	13	1637	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	DGAT1_ENST00000527438.1_5'Flank|GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Silent_p.*431*	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	493	Transactivation domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGCTGTTTGAGCTGGGAGA	0.672																																						dbGAP											0													15.0	16.0	16.0					8																	145537880		2014	3988	6002	-	-	-	SO:0001583	missense	0			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.1477G>A	8.37:g.145537880G>A	ENSP00000431512:p.Glu493Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.E493K	ENST00000528838.1	37	c.1477	CCDS6419.1	8	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570231	0.86542	.	.	ENSG00000185122	ENST00000528838	.	.	.	5.06	4.18	0.49190	Vertebrate heat shock transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80390	-0.1402	9	0.72032	D	0.01	-29.8005	12.6495	0.56753	0.0:0.0:0.8333:0.1667	.	493	Q00613	HSF1_HUMAN	K	493	.	ENSP00000431512:E493K	E	+	1	0	HSF1	145508688	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	5.989000	0.70587	1.109000	0.41680	0.650000	0.86243	GAG	HSF1	-	pfam_Vert_HS_TF	ENSG00000185122		0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1	19	0.00	0	G	NM_005526		145537880	145537880	+1	no_errors	ENST00000528838	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
IGHV1-45	28466	genome.wustl.edu	37	14	106963186	106963186	+	RNA	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr14:106963186C>G	ENST00000390621.2	-	0	153									immunoglobulin heavy variable 1-45																		AGGACCCAGTCTTCTTCACCT	0.577																																						dbGAP											0													87.0	86.0	86.0					14																	106963186		1949	4151	6100	-	-	-			0			X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963186C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K32N	ENST00000390621.2	37	c.96		14																																																																																			IGHV1-45	-	pfam_Ig_V-set	ENSG00000211961		0.577	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV1-45	HGNC	IG_V_gene	OTTHUMT00000325169.1	217	0.46	1	C	NG_001019		106963186	106963186	-1	no_stop_codon	ENST00000390621	ensembl	human	known	69_37n	missense	131	35.15	71	SNP	0.293	G
IL3RA	3563	genome.wustl.edu	37	X	1497591	1497591	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:1497591G>A	ENST00000331035.4	+	10	1263	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	IL3RA_ENST00000381469.2_Missense_Mutation_p.R227Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	305					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTGCCTGGCGGACGTCGCTG	0.672																																						dbGAP											0													125.0	100.0	108.0					X																	1497591		2201	4296	6497	-	-	-	SO:0001583	missense	0			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.914G>A	X.37:g.1497591G>A	ENSP00000327890:p.Arg305Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.R305Q	ENST00000331035.4	37	c.914	CCDS14113.1	X	.	.	.	.	.	.	.	.	.	.	.	6.267	0.417403	0.11870	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.95853	1.56;-3.83	0.798	-0.56	0.11789	.	704.987000	0.01387	U	0.013128	D	0.88522	0.6459	N	0.22421	0.69	0.09310	N	1	P;P	0.43578	0.811;0.713	B;B	0.31547	0.064;0.132	T	0.83154	-0.0102	9	0.39692	T	0.17	.	.	.	.	.	226;305	P26951-2;P26951	.;IL3RA_HUMAN	Q	305;227	ENSP00000327890:R305Q;ENSP00000370878:R227Q	ENSP00000327890:R305Q	R	+	2	0	IL3RA	1457591	0.004000	0.15560	0.006000	0.13384	0.044000	0.14063	-0.341000	0.07811	-0.223000	0.09943	0.402000	0.26972	CGG	IL3RA	-	NULL	ENSG00000185291		0.672	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	114	0.00	0	G			1497591	1497591	+1	no_errors	ENST00000331035	ensembl	human	known	69_37n	missense	117	33.52	59	SNP	0.006	A
ITGA10	8515	genome.wustl.edu	37	1	145538042	145538042	+	Silent	SNP	C	C	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:145538042C>A	ENST00000369304.3	+	22	2896	c.2721C>A	c.(2719-2721)gtC>gtA	p.V907V	ITGA10_ENST00000538811.1_Silent_p.V776V|ITGA10_ENST00000539363.1_Silent_p.V764V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	907					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAGCCAGGTCTTCGTGAAGC	0.527																																						dbGAP											0													181.0	169.0	173.0					1																	145538042		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2721C>A	1.37:g.145538042C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V907	ENST00000369304.3	37	c.2721	CCDS918.1	1																																																																																			ITGA10	-	pfam_Integrin_alpha-2	ENSG00000143127		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	156	0.00	0	C	NM_003637		145538042	145538042	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	silent	138	22.47	40	SNP	0.983	A
KCND2	3751	genome.wustl.edu	37	7	120387763	120387763	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr7:120387763G>C	ENST00000331113.4	+	6	2709	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	582					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAAAATGGAAGAGTGTGTTAA	0.353																																						dbGAP											0													86.0	78.0	81.0					7																	120387763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1744G>C	7.37:g.120387763G>C	ENSP00000333496:p.Glu582Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.E582Q	ENST00000331113.4	37	c.1744	CCDS5776.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.029385|4.029385	0.75504|0.75504	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000331113|ENST00000425288	D|.	0.97186|.	-4.28|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66982|0.66982	0.2845|0.2845	L|L	0.40543|0.40543	1.245|1.245	0.46954|0.46954	D|D	0.999262|0.999262	P|.	0.38788|.	0.647|.	B|.	0.40199|.	0.322|.	T|T	0.61836|0.61836	-0.6981|-0.6981	9|5	.|.	.|.	.|.	.|.	19.4252|19.4252	0.94739|0.94739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	582|.	Q9NZV8|.	KCND2_HUMAN|.	Q|N	582|167	ENSP00000333496:E582Q|.	.|.	E|K	+|+	1|3	0|2	KCND2|KCND2	120174999|120174999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.024000|9.024000	0.93689|0.93689	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	GAG|AAG	KCND2	-	prints_K_chnl_volt-dep_Kv4.2	ENSG00000184408		0.353	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	133	0.00	0	G	NM_012281		120387763	120387763	+1	no_errors	ENST00000331113	ensembl	human	known	69_37n	missense	72	24.21	23	SNP	1.000	C
KCNV2	169522	genome.wustl.edu	37	9	2729631	2729631	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr9:2729631G>A	ENST00000382082.3	+	2	1780	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	514					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TACGCAGGGAGAGGGGAGAGG	0.463																																						dbGAP											0													112.0	101.0	104.0					9																	2729631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1542G>A	9.37:g.2729631G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6X0	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.E514	ENST00000382082.3	37	c.1542	CCDS6447.1	9																																																																																			KCNV2	-	NULL	ENSG00000168263		0.463	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	HGNC	protein_coding	OTTHUMT00000051528.1	166	0.00	0	G	NM_133497		2729631	2729631	+1	no_errors	ENST00000382082	ensembl	human	known	69_37n	silent	97	25.38	33	SNP	0.384	A
KIAA0825	285600	genome.wustl.edu	37	5	93732078	93732078	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:93732078C>T	ENST00000513200.3	-	16	3096	c.3024G>A	c.(3022-3024)ttG>ttA	p.L1008L	KIAA0825_ENST00000427991.2_Silent_p.L1008L	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	1008										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CAGCTTTCTTCAATTCAACAA	0.383																																						dbGAP											0													42.0	35.0	37.0					5																	93732078		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.3024G>A	5.37:g.93732078C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O94914|Q6ZNN2	Silent	SNP	NULL	p.L1008	ENST00000513200.3	37	c.3024		5																																																																																			KIAA0825	-	NULL	ENSG00000185261		0.383	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	40	0.00	0	C	NM_173665		93732078	93732078	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	silent	39	32.76	19	SNP	1.000	T
KIF1A	547	genome.wustl.edu	37	2	241712662	241712662	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr2:241712662C>A	ENST00000320389.7	-	13	1207	c.1049G>T	c.(1048-1050)cGg>cTg	p.R350L	KIF1A_ENST00000498729.2_Missense_Mutation_p.R350L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	350	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGCTTGGCCCGGTCAGCATA	0.627																																						dbGAP											0													72.0	78.0	76.0					2																	241712662		2198	4299	6497	-	-	-	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1049G>T	2.37:g.241712662C>A	ENSP00000322791:p.Arg350Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.R350L	ENST00000320389.7	37	c.1049	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667440	0.88348	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.90004	-2.6;-2.6;-2.6	3.83	3.83	0.44106	Kinesin, motor domain (3);	0.000000	0.85682	U	0.000000	D	0.96178	0.8754	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.993;0.999	D	0.97817	1.0254	10	0.87932	D	0	.	15.7385	0.77866	0.0:1.0:0.0:0.0	.	350;350;350	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	L	350	ENSP00000322791:R350L;ENSP00000438388:R350L;ENSP00000384231:R350L	ENSP00000322791:R350L	R	-	2	0	KIF1A	241361335	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.626000	0.83164	1.688000	0.51068	0.491000	0.48974	CGG	KIF1A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000130294		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	140	0.00	0	C	NM_138483		241712662	241712662	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	missense	92	26.40	33	SNP	1.000	A
KIF5A	3798	genome.wustl.edu	37	12	57969055	57969055	+	Splice_Site	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:57969055G>A	ENST00000455537.2	+	16	2179	c.1905G>A	c.(1903-1905)caG>caA	p.Q635Q	KIF5A_ENST00000286452.5_Splice_Site_p.Q546Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	635					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)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCATCTCTCAGGTGAGTGCCT	0.537																																						dbGAP											0													34.0	34.0	34.0					12																	57969055		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1905+1G>A	12.37:g.57969055G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8M5|Q4LE26	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q635	ENST00000455537.2	37	c.1905	CCDS8945.1	12																																																																																			KIF5A	-	NULL	ENSG00000155980		0.537	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	63	0.00	0	G	NM_004984	Silent	57969055	57969055	+1	no_errors	ENST00000455537	ensembl	human	known	69_37n	silent	56	32.53	27	SNP	1.000	A
KLHL11	55175	genome.wustl.edu	37	17	40021290	40021290	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:40021290G>A	ENST00000319121.3	-	1	394	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	ACLY_ENST00000588779.1_5'Flank	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	112	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AGTACCGAGCGGTGGGCCCGG	0.687																																						dbGAP											0													10.0	13.0	12.0					17																	40021290		2105	4149	6254	-	-	-	SO:0001583	missense	0				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.334C>T	17.37:g.40021290G>A	ENSP00000314608:p.Arg112Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R112C	ENST00000319121.3	37	c.334	CCDS11411.1	17	.	.	.	.	.	.	.	.	.	.	g	27.1	4.798081	0.90538	.	.	ENSG00000178502	ENST00000319121	T	0.75477	-0.94	4.69	4.69	0.59074	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.067504	0.56097	D	0.000033	D	0.91872	0.7427	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95148	0.8270	10	0.87932	D	0	0.1352	17.8294	0.88676	0.0:0.0:1.0:0.0	.	112	Q9NVR0	KLH11_HUMAN	C	112	ENSP00000314608:R112C	ENSP00000314608:R112C	R	-	1	0	KLHL11	37274816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.842000	0.75379	2.437000	0.82529	0.645000	0.84053	CGC	KLHL11	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000178502		0.687	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL11	HGNC	protein_coding	OTTHUMT00000257464.2	10	0.00	0	G	NM_018143		40021290	40021290	-1	no_errors	ENST00000319121	ensembl	human	known	69_37n	missense	43	40.54	30	SNP	1.000	A
LAMA2	3908	genome.wustl.edu	37	6	129781390	129781390	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr6:129781390G>C	ENST00000421865.2	+	49	6962	c.6913G>C	c.(6913-6915)Gaa>Caa	p.E2305Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2305	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGCATGGGAGAAACATACTT	0.393																																						dbGAP											0													136.0	123.0	127.0					6																	129781390		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6913G>C	6.37:g.129781390G>C	ENSP00000400365:p.Glu2305Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E2305Q	ENST00000421865.2	37	c.6913	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.225077	0.95173	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.46063	0.88	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	L	0.39467	1.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.30001	-0.9993	9	.	.	.	.	20.0661	0.97704	0.0:0.0:1.0:0.0	.	2306;2305	A6NF00;P24043	.;LAMA2_HUMAN	Q	2305;2304;2305;323	ENSP00000400365:E2305Q	.	E	+	1	0	LAMA2	129823083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.467000	0.97671	2.730000	0.93505	0.650000	0.86243	GAA	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196569		0.393	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	125	0.00	0	G			129781390	129781390	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	98	30.00	42	SNP	1.000	C
LARP7	51574	genome.wustl.edu	37	4	113568490	113568490	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:113568490C>G	ENST00000344442.5	+	7	1060	c.782C>G	c.(781-783)tCt>tGt	p.S261C	MIR302B_ENST00000505215.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.S261C|MIR302C_ENST00000362232.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.S268C|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	261	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCTGAGGGCTCTGACATTGAG	0.428																																						dbGAP											0													107.0	106.0	106.0					4																	113568490		1888	4115	6003	-	-	-	SO:0001583	missense	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.782C>G	4.37:g.113568490C>G	ENSP00000344950:p.Ser261Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.S261C	ENST00000344442.5	37	c.782	CCDS3701.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.86|18.86	3.713887|3.713887	0.68730|0.68730	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000511529|ENST00000344442;ENST00000509061;ENST00000505034;ENST00000324052	.|T;T;T;T	.|0.20463	.|2.07;2.07;2.1;2.07	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.163489	.|0.56097	.|D	.|0.000030	T|T	0.50274|0.50274	0.1606|0.1606	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.953	T|T	0.45086|0.45086	-0.9285|-0.9285	5|10	.|0.59425	.|D	.|0.04	-25.3859|-25.3859	19.7593|19.7593	0.96308|0.96308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|261;261	.|D6RFF0;Q4G0J3	.|.;LARP7_HUMAN	V|C	42|261;268;261;261	.|ENSP00000344950:S261C;ENSP00000422626:S268C;ENSP00000421541:S261C;ENSP00000314311:S261C	.|ENSP00000314311:S261C	L|S	+|+	1|2	2|0	LARP7|LARP7	113787939|113787939	0.835000|0.835000	0.29415|0.29415	0.955000|0.955000	0.39395|0.39395	0.232000|0.232000	0.25224|0.25224	1.432000|1.432000	0.34936|0.34936	2.775000|2.775000	0.95449|0.95449	0.563000|0.563000	0.77884|0.77884	CTG|TCT	LARP7	-	NULL	ENSG00000174720		0.428	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	191	0.00	0	C	NM_016648		113568490	113568490	+1	no_errors	ENST00000324052	ensembl	human	known	69_37n	missense	109	33.13	54	SNP	0.998	G
LPL	4023	genome.wustl.edu	37	8	19818493	19818493	+	Silent	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr8:19818493C>G	ENST00000311322.8	+	8	1691	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	407	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TGTTGAAGCTCAAATGGAAGA	0.413																																						dbGAP											0													110.0	106.0	108.0					8																	19818493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1221C>G	8.37:g.19818493C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.L407	ENST00000311322.8	37	c.1221	CCDS6012.1	8																																																																																			LPL	-	pirsf_Lipoprotein_lipase_LIPH,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipase,tigrfam_Lipo_Lipase	ENSG00000175445		0.413	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	122	0.00	0	C			19818493	19818493	+1	no_errors	ENST00000311322	ensembl	human	known	69_37n	silent	84	30.58	37	SNP	0.154	G
LRCH1	23143	genome.wustl.edu	37	13	47286664	47286664	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr13:47286664G>C	ENST00000389798.3	+	15	1783	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	LRCH1_ENST00000389797.3_Missense_Mutation_p.R529T|LRCH1_ENST00000311191.6_Missense_Mutation_p.R529T	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	529										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCACAGATTAGAGAGAACTCC	0.398																																						dbGAP											0													134.0	142.0	139.0					13																	47286664		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1586G>C	13.37:g.47286664G>C	ENSP00000374448:p.Arg529Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R529T	ENST00000389798.3	37	c.1586	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267736	0.59540	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.52295	0.67;0.72;0.71	5.88	3.91	0.45181	.	0.561043	0.20537	N	0.090386	T	0.37598	0.1009	M	0.63428	1.95	0.09310	N	1	B;P;B	0.36974	0.377;0.576;0.204	B;B;B	0.33620	0.117;0.167;0.055	T	0.17806	-1.0357	10	0.12766	T	0.61	-1.8266	7.6907	0.28567	0.2927:0.0:0.7073:0.0	.	529;529;529	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	T	529	ENSP00000308493:R529T;ENSP00000374448:R529T;ENSP00000374447:R529T	ENSP00000308493:R529T	R	+	2	0	LRCH1	46184665	0.974000	0.33945	0.158000	0.22627	0.770000	0.43624	2.854000	0.48325	1.487000	0.48415	0.655000	0.94253	AGA	LRCH1	-	NULL	ENSG00000136141		0.398	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	138	0.00	0	G	NM_015116		47286664	47286664	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	missense	75	33.63	38	SNP	0.114	C
LRCH2	57631	genome.wustl.edu	37	X	114391183	114391183	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:114391183G>A	ENST00000317135.8	-	12	1541	c.1511C>T	c.(1510-1512)aCt>aTt	p.T504I	LRCH2_ENST00000538422.1_Missense_Mutation_p.T504I	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	504										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACATTCCACAGTTTGTTTTGG	0.274																																						dbGAP											0													41.0	34.0	36.0					X																	114391183		1711	3877	5588	-	-	-	SO:0001583	missense	0			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1511C>T	X.37:g.114391183G>A	ENSP00000325091:p.Thr504Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.T504I	ENST00000317135.8	37	c.1511	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	7.868	0.727440	0.15439	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.84730	-1.89;5.74	4.89	0.818	0.18778	.	0.939021	0.08968	N	0.867718	T	0.68293	0.2985	N	0.03608	-0.345	0.22435	N	0.999104	B;B	0.23650	0.089;0.007	B;B	0.24269	0.052;0.003	T	0.54833	-0.8234	10	0.32370	T	0.25	-4.2239	10.4814	0.44695	0.0:0.5395:0.3203:0.1402	.	504;504	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	I	504	ENSP00000325091:T504I;ENSP00000439366:T504I	ENSP00000325091:T504I	T	-	2	0	LRCH2	114297439	0.038000	0.19896	0.744000	0.31058	0.729000	0.41735	0.099000	0.15210	0.122000	0.18314	-0.239000	0.12128	ACT	LRCH2	-	NULL	ENSG00000130224		0.274	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	92	0.00	0	G	NM_020871		114391183	114391183	-1	no_errors	ENST00000317135	ensembl	human	known	69_37n	missense	67	32.32	32	SNP	0.406	A
LRRIQ1	84125	genome.wustl.edu	37	12	85449664	85449664	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:85449664G>A	ENST00000393217.2	+	8	1154	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	365	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		aaaagaatatgaagaaaaaaa	0.318																																						dbGAP											0													23.0	25.0	25.0					12																	85449664		2191	4272	6463	-	-	-	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1093G>A	12.37:g.85449664G>A	ENSP00000376910:p.Glu365Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E365K	ENST00000393217.2	37	c.1093	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179431	0.38511	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.65732	-0.17	5.42	4.53	0.55603	.	0.367392	0.30820	N	0.008805	T	0.65112	0.2660	L	0.39898	1.24	0.29399	N	0.862054	D;D	0.63880	0.986;0.993	P;P	0.55615	0.78;0.78	T	0.64748	-0.6334	10	0.62326	D	0.03	.	12.495	0.55923	0.0778:0.0:0.9222:0.0	.	365;340	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	365;340;365	ENSP00000376910:E365K	ENSP00000256007:E365K	E	+	1	0	LRRIQ1	83973795	0.962000	0.33011	0.982000	0.44146	0.181000	0.23173	1.041000	0.30291	1.304000	0.44892	0.313000	0.20887	GAA	LRRIQ1	-	NULL	ENSG00000133640		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	35	0.00	0	G	NM_032165		85449664	85449664	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	A
MAST4	375449	genome.wustl.edu	37	5	66396326	66396326	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:66396326C>G	ENST00000403625.2	+	8	1271	c.976C>G	c.(976-978)Cac>Gac	p.H326D	MAST4_ENST00000405643.1_Missense_Mutation_p.H147D|MAST4_ENST00000404260.3_Missense_Mutation_p.H329D|MAST4_ENST00000403666.1_Missense_Mutation_p.H137D|MAST4_ENST00000490016.2_Missense_Mutation_p.H137D|MAST4_ENST00000261569.7_Missense_Mutation_p.H132D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	329						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGACGAGTTACACTTCTTATC	0.483																																						dbGAP											0													104.0	102.0	103.0					5																	66396326		2061	4212	6273	-	-	-	SO:0001583	missense	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.976C>G	5.37:g.66396326C>G	ENSP00000385727:p.His326Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.H329D	ENST00000403625.2	37	c.985	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.149832	0.94645	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.07	6.07	0.98685	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.64402	U	0.000004	T	0.63379	0.2506	M	0.84683	2.71	0.46044	D	0.998839	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.967;0.974	D;D;D;D;D	0.74348	0.978;0.983;0.979;0.915;0.911	T	0.66052	-0.6019	10	0.87932	D	0	-12.3016	20.6593	0.99626	0.0:1.0:0.0:0.0	.	147;329;132;137;137	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	D	329;326;137;137;147;147;132;132;132	ENSP00000385048:H329D;ENSP00000385727:H326D;ENSP00000421739:H137D;ENSP00000384313:H137D;ENSP00000384099:H147D;ENSP00000261569:H132D;ENSP00000392478:H132D	ENSP00000261569:H132D	H	+	1	0	MAST4	66432082	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.763000	0.68818	2.885000	0.99019	0.655000	0.94253	CAC	MAST4	-	pfam_MA_Ser/Thr_Kinase_dom	ENSG00000069020		0.483	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	147	0.00	0	C			66396326	66396326	+1	no_errors	ENST00000404260	ensembl	human	known	69_37n	missense	93	21.19	25	SNP	1.000	G
MCF2L2	23101	genome.wustl.edu	37	3	183041052	183041052	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:183041052G>A	ENST00000328913.3	-	6	871	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	MCF2L2_ENST00000414362.2_Missense_Mutation_p.R192C|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R192C|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R192C	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	192	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACCGTGGCGATATTCCAAA	0.483																																						dbGAP											0													125.0	123.0	124.0					3																	183041052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.574C>T	3.37:g.183041052G>A	ENSP00000328118:p.Arg192Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R192C	ENST00000328913.3	37	c.574	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	G	2.727	-0.265362	0.05754	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.56	3.72	0.42706	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.315698	0.35067	N	0.003471	T	0.23688	0.0573	N	0.01751	-0.74	0.33054	D	0.533113	B;B;B	0.25169	0.004;0.001;0.119	B;B;B	0.15484	0.006;0.002;0.013	T	0.35025	-0.9805	10	0.02654	T	1	.	3.5165	0.07727	0.0978:0.2569:0.5101:0.1352	.	192;192;192	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	C	192	ENSP00000328118:R192C;ENSP00000420070:R192C;ENSP00000388190:R192C;ENSP00000414131:R192C	ENSP00000328118:R192C	R	-	1	0	MCF2L2	184523746	1.000000	0.71417	0.982000	0.44146	0.861000	0.49209	1.848000	0.39309	1.341000	0.45600	0.655000	0.94253	CGC	MCF2L2	-	pfscan_CRAL-TRIO_dom	ENSG00000053524		0.483	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	169	0.00	0	G	NM_015078		183041052	183041052	-1	no_errors	ENST00000328913	ensembl	human	known	69_37n	missense	118	32.18	56	SNP	0.997	A
MEGF6	1953	genome.wustl.edu	37	1	3519148	3519148	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:3519148C>G	ENST00000356575.4	-	2	374	c.148G>C	c.(148-150)Gag>Cag	p.E50Q		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	50	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTCCTGCTCAGCACACACG	0.706																																					Ovarian(73;978 3658)	dbGAP											0													18.0	24.0	22.0					1																	3519148		2174	4259	6433	-	-	-	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.148G>C	1.37:g.3519148C>G	ENSP00000348982:p.Glu50Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.E50Q	ENST00000356575.4	37	c.148	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102444	0.37145	.	.	ENSG00000162591	ENST00000356575	D	0.84944	-1.92	4.44	2.53	0.30540	EMI domain (1);	0.236850	0.32548	N	0.005955	D	0.87577	0.6212	M	0.71581	2.175	0.27367	N	0.955809	D	0.76494	0.999	P	0.62491	0.903	T	0.77517	-0.2558	10	0.28530	T	0.3	-11.4137	6.1319	0.20209	0.0:0.766:0.0:0.234	.	50	O75095	MEGF6_HUMAN	Q	50	ENSP00000348982:E50Q	ENSP00000348982:E50Q	E	-	1	0	MEGF6	3509008	0.995000	0.38212	0.633000	0.29310	0.808000	0.45660	3.303000	0.51858	0.852000	0.35287	0.650000	0.86243	GAG	MEGF6	-	pfscan_EMI_domain	ENSG00000162591		0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	29	0.00	0	C	NM_001409		3519148	3519148	-1	no_errors	ENST00000356575	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.915	G
METTL23	124512	genome.wustl.edu	37	17	74729730	74729730	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:74729730G>C	ENST00000341249.6	+	5	867	c.535G>C	c.(535-537)Gaa>Caa	p.E179Q	MFSD11_ENST00000588460.1_5'Flank|METTL23_ENST00000586752.1_Missense_Mutation_p.E112Q|METTL23_ENST00000588822.1_Missense_Mutation_p.E112Q|METTL23_ENST00000586738.1_3'UTR|MIR636_ENST00000384825.1_RNA|METTL23_ENST00000590964.1_Missense_Mutation_p.E112Q|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586200.1_Missense_Mutation_p.E60Q|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_3'UTR|MFSD11_ENST00000586622.1_5'Flank	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	179						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						ACATACAGTTGAAATGCTGGT	0.408																																						dbGAP											0													121.0	119.0	120.0					17																	74729730		1900	4122	6022	-	-	-	SO:0001583	missense	0				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.535G>C	17.37:g.74729730G>C	ENSP00000341543:p.Glu179Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	H9ZYJ0|K7EK32	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.E179Q	ENST00000341249.6	37	c.535	CCDS45787.1	17	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667132	0.47677	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.22539	1.95	5.93	5.93	0.95920	.	0.291197	0.35936	N	0.002897	T	0.16214	0.0390	N	0.21448	0.665	0.37271	D	0.907393	B	0.18863	0.031	B	0.17433	0.018	T	0.10730	-1.0617	10	0.25751	T	0.34	-24.7395	15.7911	0.78364	0.0:0.1353:0.8647:0.0	.	179	Q86XA0	MET23_HUMAN	Q	258;179	ENSP00000341543:E179Q	ENSP00000316862:E258Q	E	+	1	0	METTL23	72241325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.328000	0.59253	2.826000	0.97356	0.655000	0.94253	GAA	METTL23	-	NULL	ENSG00000181038		0.408	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL23	HGNC	protein_coding	OTTHUMT00000451002.1	86	0.00	0	G	NM_001080510		74729730	74729730	+1	no_errors	ENST00000341249	ensembl	human	known	69_37n	missense	79	31.03	36	SNP	1.000	C
MTR	4548	genome.wustl.edu	37	1	236988693	236988693	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:236988693C>T	ENST00000366577.5	+	10	1315	c.921C>T	c.(919-921)caC>caT	p.H307H	MTR_ENST00000535889.1_Silent_p.H307H	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	307	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGCCAAGCACCTAAAGGTCA	0.383																																						dbGAP											0													143.0	144.0	144.0					1																	236988693		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.921C>T	1.37:g.236988693C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.H307	ENST00000366577.5	37	c.921	CCDS1614.1	1																																																																																			MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH	ENSG00000116984		0.383	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	145	0.00	0	C	NM_000254		236988693	236988693	+1	no_errors	ENST00000366577	ensembl	human	known	69_37n	silent	122	23.75	38	SNP	0.798	T
MYB	4602	genome.wustl.edu	37	6	135515023	135515036	+	Frame_Shift_Del	DEL	CAATGTCCCTCAGC	CAATGTCCCTCAGC	-			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	CAATGTCCCTCAGC	CAATGTCCCTCAGC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr6:135515023_135515036delCAATGTCCCTCAGC	ENST00000367814.4	+	7	996_1009	c.810_823delCAATGTCCCTCAGC	c.(808-825)gtcaatgtccctcagccafs	p.NVPQP271fs	MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000442647.2_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000527615.1_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000528774.1_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000533624.1_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000525369.1_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000341911.5_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000420123.2_Frame_Shift_Del_p.NVPQP247fs|MYB_ENST00000316528.8_Frame_Shift_Del_p.NVPQP271fs|MYB_ENST00000534044.1_Frame_Shift_Del_p.NVPQP271fs	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	271					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TAAATATAGTCAATGTCCCTCAGCCAGCTGCCGC	0.402			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.810_823delCAATGTCCCTCAGC	6.37:g.135515023_135515036delCAATGTCCCTCAGC	ENSP00000356788:p.Asn271fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Frame_Shift_Del	DEL	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.N271fs	ENST00000367814.4	37	c.810_823	CCDS5174.1	6																																																																																			MYB	-	pfam_Tscrpt_reg_Wos2-domain	ENSG00000118513		0.402	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	327	0.00	0	CAATGTCCCTCAGC			135515023	135515036	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	frame_shift_del	298	16.25	58	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
NAT14	57106	genome.wustl.edu	37	19	55998266	55998266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr19:55998266delG	ENST00000205194.4	+	3	867	c.564delG	c.(562-564)gagfs	p.E188fs	SSC5D_ENST00000587166.1_5'Flank|SSC5D_ENST00000389623.6_5'Flank|NAT14_ENST00000592719.1_Intron|NAT14_ENST00000587400.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	188	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of transcription, DNA-templated (GO:0045893)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|N-acetyltransferase activity (GO:0008080)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		ACCAGGCCGAGGGGGGCTGGG	0.716																																						dbGAP											0													5.0	5.0	5.0					19																	55998266		1928	3892	5820	-	-	-	SO:0001589	frameshift_variant	0			AB055059	CCDS12926.1	19q13.42	2011-11-25	2008-09-24		ENSG00000090971	ENSG00000090971			28918	protein-coding gene	gene with protein product	"""K562 cells-derived leucine zipper-like protein 1"""		"""N-acetyltransferase 14"""			10873651	Standard	NM_020378		Approved	KLP1	uc002qle.2	Q8WUY8		ENST00000205194.4:c.564delG	19.37:g.55998266delG	ENSP00000205194:p.Glu188fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDY7|Q9NS72	Frame_Shift_Del	DEL	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.G190fs	ENST00000205194.4	37	c.564	CCDS12926.1	19																																																																																			NAT14	-	pfscan_GNAT_dom	ENSG00000090971		0.716	NAT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT14	HGNC	protein_coding	OTTHUMT00000453339.1	16	0.00	0	G	NM_020378		55998266	55998266	+1	no_errors	ENST00000205194	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.991	-
NBPF10	100132406	genome.wustl.edu	37	1	145299900	145299900	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:145299900C>G	ENST00000369338.1	+	2	326	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.Q317E|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	317						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTCTAACTCAACTGTCCGG	0.428																																						dbGAP											0													45.0	31.0	35.0					1																	145299900		692	1591	2283	-	-	-	SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.136C>G	1.37:g.145299900C>G	ENSP00000358344:p.Gln46Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.Q317E	ENST00000369338.1	37	c.949		1	.	.	.	.	.	.	.	.	.	.	.	6.236	0.411618	0.11812	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.08546	3.08;4.09	1.05	-2.1	0.07210	.	.	.	.	.	T	0.01695	0.0054	L	0.39397	1.21	0.09310	N	1	P	0.40909	0.732	B	0.36244	0.22	T	0.39502	-0.9611	9	0.44086	T	0.13	.	2.9349	0.05811	0.3057:0.3907:0.3036:0.0	.	46	Q86T75-2	.	E	242;46;46;317	ENSP00000358344:Q46E;ENSP00000345684:Q317E	ENSP00000345684:Q317E	Q	+	1	0	NBPF10	144011257	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.598000	0.24074	-0.602000	0.05775	0.281000	0.19383	CAA	NBPF10	-	NULL	ENSG00000163386		0.428	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038552.1	368	0.00	0	C	NM_001039703		145299900	145299900	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	missense	353	12.59	51	SNP	0.000	G
NCF2	4688	genome.wustl.edu	37	1	183542412	183542412	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:183542412C>T	ENST00000367535.3	-	5	768	c.517G>A	c.(517-519)Gag>Aag	p.E173K	NCF2_ENST00000413720.1_Missense_Mutation_p.E128K|NCF2_ENST00000367536.1_Missense_Mutation_p.E173K|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	173					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACCACTGGCTCATATAGCTTC	0.507																																						dbGAP											0													171.0	156.0	161.0					1																	183542412		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.517G>A	1.37:g.183542412C>T	ENSP00000356505:p.Glu173Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.E173K	ENST00000367535.3	37	c.517	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226756	0.39399	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000367535	T;T;T	0.65364	-0.15;-0.05;-0.15	5.08	5.08	0.68730	Tetratricopeptide-like helical (1);	0.415413	0.28815	N	0.014048	T	0.52208	0.1720	L	0.31420	0.93	0.80722	D	1	P;B	0.43857	0.819;0.031	B;B	0.40602	0.334;0.007	T	0.49466	-0.8937	10	0.20519	T	0.43	-3.7915	18.4507	0.90703	0.0:1.0:0.0:0.0	.	128;173	E9PHX3;P19878	.;NCF2_HUMAN	K	173;201;128;173	ENSP00000356506:E173K;ENSP00000399294:E128K;ENSP00000356505:E173K	ENSP00000356505:E173K	E	-	1	0	NCF2	181809035	1.000000	0.71417	0.972000	0.41901	0.767000	0.43475	2.625000	0.46452	2.349000	0.79799	0.585000	0.79938	GAG	NCF2	-	NULL	ENSG00000116701		0.507	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	119	0.00	0	C	NM_000433		183542412	183542412	-1	no_errors	ENST00000367535	ensembl	human	known	69_37n	missense	133	24.00	42	SNP	0.996	T
NHS	4810	genome.wustl.edu	37	X	17746433	17746433	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:17746433G>A	ENST00000380060.3	+	6	4482	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	NHS_ENST00000398097.3_Missense_Mutation_p.E1226K	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1403					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAATGTGGATGAGGCTTCATT	0.403																																						dbGAP											0													40.0	40.0	40.0					X																	17746433		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4144G>A	X.37:g.17746433G>A	ENSP00000369400:p.Glu1382Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.E1382K	ENST00000380060.3	37	c.4144	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002611	0.74932	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.46451	0.87;0.87	5.89	5.89	0.94794	.	0.370854	0.30611	N	0.009242	T	0.40979	0.1139	L	0.54323	1.7	0.58432	D	0.99999	B;B;B;P	0.39782	0.449;0.184;0.184;0.688	B;B;B;B	0.36134	0.154;0.098;0.098;0.218	T	0.19321	-1.0309	10	0.23891	T	0.37	-10.6284	19.178	0.93611	0.0:0.0:1.0:0.0	.	1403;1224;1226;1382	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	K	1382;1226;1224	ENSP00000369400:E1382K;ENSP00000381170:E1226K	ENSP00000369397:E1224K	E	+	1	0	NHS	17656354	1.000000	0.71417	0.148000	0.22405	0.992000	0.81027	5.563000	0.67352	2.480000	0.83734	0.600000	0.82982	GAG	NHS	-	NULL	ENSG00000188158		0.403	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	60	0.00	0	G	NM_198270		17746433	17746433	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	missense	48	28.36	19	SNP	0.990	A
NOX4	50507	genome.wustl.edu	37	11	89135609	89135609	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr11:89135609G>C	ENST00000263317.4	-	9	969	c.731C>G	c.(730-732)tCa>tGa	p.S244*	NOX4_ENST00000413594.2_Nonsense_Mutation_p.S265*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.S219*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.S220*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.S220*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Nonsense_Mutation_p.S220*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.S244*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.S220*|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000535633.1_Nonsense_Mutation_p.S220*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.S78*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.S220*			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	244	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAAATGTTCTGAGAAATACTC	0.428																																						dbGAP											0													94.0	105.0	101.0					11																	89135609		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.731C>G	11.37:g.89135609G>C	ENSP00000263317:p.Ser244*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.S265*	ENST00000263317.4	37	c.794	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.954712	0.97139	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	4.76	4.76	0.60689	.	1.205630	0.05938	N	0.636504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5398	8.6463	0.34007	0.0:0.1342:0.6551:0.2106	.	.	.	.	X	220;220;220;244;244;220;220;220;78;219;265	.	.	S	-	2	0	NOX4	88775257	0.212000	0.23540	0.899000	0.35326	0.889000	0.51656	1.215000	0.32431	2.354000	0.79902	0.467000	0.42956	TCA	NOX4	-	NULL	ENSG00000086991		0.428	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	152	0.00	0	G	NM_016931		89135609	89135609	-1	no_errors	ENST00000413594	ensembl	human	known	69_37n	nonsense	106	31.41	49	SNP	0.158	C
NPEPPS	9520	genome.wustl.edu	37	17	45664628	45664628	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:45664628C>G	ENST00000322157.4	+	9	1250	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	NPEPPS_ENST00000544660.1_Missense_Mutation_p.S258C|NPEPPS_ENST00000530173.1_Missense_Mutation_p.S334C|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	338					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CCAAAAAATTCCTGTTCTTCA	0.358																																						dbGAP											0													32.0	29.0	30.0					17																	45664628		1805	4080	5885	-	-	-	SO:0001583	missense	0			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1013C>G	17.37:g.45664628C>G	ENSP00000320324:p.Ser338Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S338C	ENST00000322157.4	37	c.1013	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901789	0.72754	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.43	5.43	0.79202	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.982;0.986;0.992	T	0.03325	-1.1048	10	0.87932	D	0	.	19.2379	0.93869	0.0:1.0:0.0:0.0	.	338;334;338	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	C	334;338;325;258;21	ENSP00000433287:S334C;ENSP00000320324:S338C;ENSP00000442461:S258C;ENSP00000435639:S21C	ENSP00000320324:S338C	S	+	2	0	NPEPPS	43019627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.803000	0.85983	2.537000	0.85549	0.650000	0.86243	TCC	NPEPPS	-	pfam_Peptidase_M1_N	ENSG00000141279		0.358	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	238	0.00	0	C	NM_006310		45664628	45664628	+1	no_errors	ENST00000322157	ensembl	human	known	69_37n	missense	88	44.38	71	SNP	1.000	G
NQO2	4835	genome.wustl.edu	37	6	3017179	3017179	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr6:3017179G>A	ENST00000338130.2	+	9	1191	c.479G>A	c.(478-480)gGa>gAa	p.G160E	NQO2_ENST00000380454.4_Missense_Mutation_p.G122E|NQO2_ENST00000380455.4_Missense_Mutation_p.G160E|NQO2_ENST00000380441.1_Missense_Mutation_p.G122E|NQO2_ENST00000380430.1_Missense_Mutation_p.G160E			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	160					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	ACGAAGACAGGAGTCAATGGA	0.547																																						dbGAP											0													161.0	125.0	137.0					6																	3017179		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.479G>A	6.37:g.3017179G>A	ENSP00000337773:p.Gly160Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R492|Q5TD04	Missense_Mutation	SNP	pfam_Flavodoxin_fold,pfam_FMN_red	p.G160E	ENST00000338130.2	37	c.479	CCDS4481.1	6	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009440	0.54361	.	.	ENSG00000124588	ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T	0.13538	2.58;2.72;2.58;2.72;2.58	5.4	4.34	0.51931	Flavodoxin-like fold (1);	0.109296	0.64402	D	0.000006	T	0.26484	0.0647	M	0.85945	2.785	0.40429	D	0.97992	P	0.41784	0.762	P	0.54815	0.761	T	0.01192	-1.1423	10	0.72032	D	0.01	-26.331	12.9749	0.58532	0.0907:0.0:0.9093:0.0	.	160	P16083	NQO2_HUMAN	E	160;122;160;122;160	ENSP00000337773:G160E;ENSP00000369806:G122E;ENSP00000369822:G160E;ENSP00000369821:G122E;ENSP00000369795:G160E	ENSP00000337773:G160E	G	+	2	0	NQO2	2962178	0.942000	0.31987	0.096000	0.21009	0.017000	0.09413	3.313000	0.51935	2.530000	0.85305	0.563000	0.77884	GGA	NQO2	-	pfam_Flavodoxin_fold	ENSG00000124588		0.547	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NQO2	HGNC	protein_coding	OTTHUMT00000039651.1	87	0.00	0	G			3017179	3017179	+1	no_errors	ENST00000338130	ensembl	human	known	69_37n	missense	58	39.58	38	SNP	0.760	A
NRP1	8829	genome.wustl.edu	37	10	33502481	33502481	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr10:33502481C>T	ENST00000265371.4	-	10	1972	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	NRP1_ENST00000432372.2_Missense_Mutation_p.E483K|NRP1_ENST00000395995.1_Missense_Mutation_p.E483K|NRP1_ENST00000374875.1_Missense_Mutation_p.E302K|NRP1_ENST00000374867.2_Missense_Mutation_p.E483K|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Missense_Mutation_p.E483K|NRP1_ENST00000374821.5_Missense_Mutation_p.E483K|NRP1_ENST00000374823.5_Missense_Mutation_p.E483K|NRP1_ENST00000374816.3_Missense_Mutation_p.E483K			O14786	NRP1_HUMAN	neuropilin 1	483	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGGAGCCACTCATTGATGTAG	0.532																																					Melanoma(104;886 1489 44640 45944 51153)	dbGAP											0													151.0	137.0	141.0					10																	33502481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1447G>A	10.37:g.33502481C>T	ENSP00000265371:p.Glu483Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.E483K	ENST00000265371.4	37	c.1447	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771373	0.90108	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38;-5.38;-5.38;-5.38;-5.38;-5.38	5.95	5.03	0.67393	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	M	0.90870	3.155	0.80722	D	1	P;D;P;P;P;P;D;D;D	0.69078	0.768;0.997;0.91;0.545;0.528;0.583;0.994;0.994;0.987	B;P;P;B;B;B;P;P;P	0.62089	0.326;0.865;0.452;0.399;0.081;0.084;0.898;0.898;0.69	D	0.98452	1.0592	10	0.87932	D	0	-26.0001	17.3228	0.87240	0.0:0.8661:0.1339:0.0	.	483;483;483;483;483;483;483;302;483	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	K	483;302;483;483;483;483;483;483;156	ENSP00000265371:E483K;ENSP00000364009:E302K;ENSP00000364001:E483K;ENSP00000379317:E483K;ENSP00000363955:E483K;ENSP00000363954:E483K;ENSP00000363956:E483K;ENSP00000363949:E483K;ENSP00000408911:E156K	ENSP00000265371:E483K	E	-	1	0	NRP1	33542487	1.000000	0.71417	0.907000	0.35723	0.570000	0.35934	4.973000	0.63763	1.463000	0.47967	0.655000	0.94253	GAG	NRP1	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000099250		0.532	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	229	0.00	0	C			33502481	33502481	-1	no_errors	ENST00000265371	ensembl	human	known	69_37n	missense	147	25.25	50	SNP	0.998	T
OPRL1	4987	genome.wustl.edu	37	20	62730133	62730133	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr20:62730133C>T	ENST00000349451.3	+	6	1506	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	OPRL1_ENST00000355631.4_Missense_Mutation_p.T365M|OPRL1_ENST00000336866.2_Missense_Mutation_p.T365M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	365					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ACCTCTGAGACGGTACCGCGG	0.647																																						dbGAP											0													49.0	44.0	46.0					20																	62730133		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1094C>T	20.37:g.62730133C>T	ENSP00000336764:p.Thr365Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_X_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T365M	ENST00000349451.3	37	c.1094	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	C	4.703	0.130720	0.08981	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.64991	-0.13;-0.13;-0.13	5.15	0.806	0.18708	.	0.423863	0.21473	N	0.073966	T	0.44008	0.1273	L	0.29908	0.895	0.09310	N	1	B;B	0.19073	0.033;0.019	B;B	0.16722	0.016;0.004	T	0.31081	-0.9956	10	0.48119	T	0.1	.	6.0494	0.19777	0.0:0.4493:0.2869:0.2638	.	360;365	P41146-2;P41146	.;OPRX_HUMAN	M	365	ENSP00000336843:T365M;ENSP00000347848:T365M;ENSP00000336764:T365M	ENSP00000336843:T365M	T	+	2	0	OPRL1	62200577	0.047000	0.20315	0.001000	0.08648	0.096000	0.18686	0.308000	0.19314	0.218000	0.20820	-0.247000	0.11927	ACG	OPRL1	-	prints_X_opioid_rcpt	ENSG00000125510		0.647	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	40	0.00	0	C	NM_182647		62730133	62730133	+1	no_errors	ENST00000336866	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.000	T
OR2B11	127623	genome.wustl.edu	37	1	247614687	247614687	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:247614687C>T	ENST00000318749.6	-	1	621	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTATGGTGTCATTCACAGCG	0.572																																						dbGAP											0													63.0	65.0	64.0					1																	247614687		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.598G>A	1.37:g.247614687C>T	ENSP00000325682:p.Asp200Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP03	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.D200N	ENST00000318749.6	37	c.598	CCDS31090.1	1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881369	0.33255	.	.	ENSG00000177535	ENST00000318749	T	0.00069	8.77	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.698182	0.12945	N	0.426301	T	0.00109	0.0003	N	0.05510	-0.035	0.09310	N	1	P	0.34934	0.476	B	0.33196	0.159	T	0.56944	-0.7895	10	0.87932	D	0	.	11.2989	0.49294	0.1816:0.8184:0.0:0.0	.	200	Q5JQS5	OR2BB_HUMAN	N	200	ENSP00000325682:D200N	ENSP00000325682:D200N	D	-	1	0	OR2B11	245681310	0.289000	0.24334	0.371000	0.25978	0.027000	0.11550	1.779000	0.38624	2.817000	0.96982	0.643000	0.83706	GAC	OR2B11	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177535		0.572	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B11	HGNC	protein_coding	OTTHUMT00000097620.1	88	0.00	0	C	NM_001004492		247614687	247614687	-1	no_errors	ENST00000318749	ensembl	human	known	69_37n	missense	94	22.76	28	SNP	0.044	T
OR14I1	401994	genome.wustl.edu	37	1	248845388	248845388	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:248845388G>C	ENST00000342623.3	-	1	241	c.218C>G	c.(217-219)tCa>tGa	p.S73*		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CACAGTGACTGAGATGTAGCA	0.468																																						dbGAP											0													138.0	116.0	123.0					1																	248845388		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.218C>G	1.37:g.248845388G>C	ENSP00000339726:p.Ser73*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt	p.S73*	ENST00000342623.3	37	c.218	CCDS31125.1	1	.	.	.	.	.	.	.	.	.	.	.	24.9	4.581570	0.86748	.	.	ENSG00000189181	ENST00000342623	.	.	.	3.48	3.48	0.39840	.	0.000000	0.39687	N	0.001290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.5849	0.22614	0.1346:0.0:0.8653:0.0	.	.	.	.	X	73	.	ENSP00000339726:S73X	S	-	2	0	OR14I1	246912011	0.000000	0.05858	0.006000	0.13384	0.650000	0.38633	0.334000	0.19787	1.739000	0.51704	0.536000	0.68110	TCA	OR14I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000189181		0.468	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14I1	HGNC	protein_coding	OTTHUMT00000097128.1	194	0.00	0	G	NM_001004734		248845388	248845388	-1	no_errors	ENST00000342623	ensembl	human	known	69_37n	nonsense	166	21.33	45	SNP	0.002	C
OR4F15	390649	genome.wustl.edu	37	15	102358587	102358587	+	Silent	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr15:102358587C>G	ENST00000332238.4	+	1	222	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGGCTAACCTCTCAATCATTG	0.428																																						dbGAP											0													256.0	220.0	232.0					15																	102358587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.198C>G	15.37:g.102358587C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNQ5|Q6IF57|Q96R70	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L66	ENST00000332238.4	37	c.198	CCDS32342.1	15																																																																																			OR4F15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182854		0.428	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	209	0.00	0	C	NM_001001674		102358587	102358587	+1	no_errors	ENST00000332238	ensembl	human	known	69_37n	silent	236	12.92	35	SNP	0.999	G
OTUD6A	139562	genome.wustl.edu	37	X	69283015	69283015	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:69283015C>T	ENST00000338352.2	+	1	675	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	214	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.T214M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GTGCGCACCACGGCATGGGGA	0.627																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											70.0	63.0	66.0					X																	69283015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.641C>T	X.37:g.69283015C>T	ENSP00000339389:p.Thr214Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPB7	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.T214M	ENST00000338352.2	37	c.641	CCDS14395.1	X	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453075	0.43531	.	.	ENSG00000189401	ENST00000338352	T	0.30714	1.52	4.42	-1.96	0.07525	Ovarian tumour, otubain (2);	0.234395	0.42821	D	0.000641	T	0.16557	0.0398	N	0.16368	0.405	0.09310	N	1	P	0.43542	0.81	B	0.43916	0.436	T	0.16600	-1.0397	10	0.87932	D	0	.	4.0208	0.09665	0.2333:0.3334:0.3533:0.0799	.	214	Q7L8S5	OTU6A_HUMAN	M	214	ENSP00000339389:T214M	ENSP00000339389:T214M	T	+	2	0	OTUD6A	69199740	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	2.110000	0.41873	-0.595000	0.05828	-1.059000	0.02297	ACG	OTUD6A	-	pfam_OTU,pfscan_OTU	ENSG00000189401		0.627	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD6A	HGNC	protein_coding	OTTHUMT00000358763.1	31	0.00	0	C	NM_207320		69283015	69283015	+1	no_errors	ENST00000338352	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.000	T
PCDHGA11	56105	genome.wustl.edu	37	5	140802020	140802020	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr5:140802020G>A	ENST00000398587.2	+	1	1259	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R409K|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	409	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(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAACAAGCAGAGTGCTGGAC	0.423																																						dbGAP											0													75.0	77.0	76.0					5																	140802020		1921	4122	6043	-	-	-	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1226G>A	5.37:g.140802020G>A	ENSP00000381589:p.Arg409Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R409K	ENST00000398587.2	37	c.1226	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	g	3.951	-0.012360	0.07727	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.44881	0.91;0.91	6.17	1.29	0.21616	Cadherin (4);Cadherin-like (1);	0.651850	0.11020	U	0.608520	T	0.23806	0.0576	N	0.20401	0.57	0.09310	N	1	B;B;B	0.19200	0.001;0.034;0.007	B;B;B	0.22386	0.01;0.039;0.013	T	0.31166	-0.9953	10	0.09843	T	0.71	.	7.4667	0.27326	0.2462:0.1098:0.644:0.0	.	409;409;409	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	K	409	ENSP00000381589:R409K;ENSP00000428333:R409K	ENSP00000381589:R409K	R	+	2	0	PCDHGA11	140782204	0.000000	0.05858	0.001000	0.08648	0.994000	0.84299	-0.320000	0.08028	0.167000	0.19631	0.655000	0.94253	AGA	PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.423	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	70	0.00	0	G	NM_018914		140802020	140802020	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	0.005	A
PIK3CB	5291	genome.wustl.edu	37	3	138426040	138426040	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:138426040C>G	ENST00000477593.1	-	10	1564	c.1491G>C	c.(1489-1491)gaG>gaC	p.E497D	PIK3CB_ENST00000544716.1_Intron|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E497D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	497					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GTTTTTTATTCTCTGGAAATT	0.328																																						dbGAP											0													107.0	106.0	106.0					3																	138426040		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1491G>C	3.37:g.138426040C>G	ENSP00000418143:p.Glu497Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E497D	ENST00000477593.1	37	c.1491	CCDS3104.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.947|7.947	0.744026|0.744026	0.15710|0.15710	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000289153|ENST00000493568	T;T|.	0.70164|.	-0.46;-0.46|.	5.84|5.84	1.9|1.9	0.25705|0.25705	C2 calcium/lipid-binding domain, CaLB (1);|.	0.152097|.	0.56097|.	N|.	0.000021|.	T|T	0.33702|0.33702	0.0872|0.0872	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.14012|.	0.009;0.002|.	B;B|.	0.17979|.	0.02;0.008|.	T|T	0.04400|0.04400	-1.0954|-1.0954	10|5	0.11182|.	T|.	0.66|.	-17.226|-17.226	6.3835|6.3835	0.21548|0.21548	0.0:0.5172:0.2571:0.2257|0.0:0.5172:0.2571:0.2257	.|.	497;101|.	P42338;B4DZI3|.	PK3CB_HUMAN;.|.	D|T	497|146	ENSP00000418143:E497D;ENSP00000289153:E497D|.	ENSP00000289153:E497D|.	E|R	-|-	3|2	2|0	PIK3CB|PIK3CB	139908730|139908730	0.850000|0.850000	0.29656|0.29656	1.000000|1.000000	0.80357|0.80357	0.682000|0.682000	0.39822|0.39822	-0.070000|-0.070000	0.11523|0.11523	0.752000|0.752000	0.32923|0.32923	0.591000|0.591000	0.81541|0.81541	GAG|AGA	PIK3CB	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000051382		0.328	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	170	0.00	0	C			138426040	138426040	-1	no_errors	ENST00000289153	ensembl	human	known	69_37n	missense	192	25.58	66	SNP	0.995	G
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	143	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	78	32.76	38	SNP	1.000	A
PIM2	11040	genome.wustl.edu	37	X	48771429	48771429	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:48771429C>G	ENST00000376509.4	-	6	1104	c.915G>C	c.(913-915)ttG>ttC	p.L305F	SLC35A2_ENST00000376529.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000452555.2_5'Flank|SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000376521.1_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000413561.2_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	305					apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						AGGACCAGGCCAAAGGGGCAG	0.607																																						dbGAP											0													22.0	18.0	19.0					X																	48771429		2131	4159	6290	-	-	-	SO:0001583	missense	0			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.915G>C	X.37:g.48771429C>G	ENSP00000365692:p.Leu305Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L305F	ENST00000376509.4	37	c.915	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269987	0.23221	.	.	ENSG00000102096	ENST00000376509	T	0.69806	-0.43	4.86	0.965	0.19661	.	0.691823	0.12948	N	0.426040	T	0.50137	0.1598	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.52109	0.69	T	0.38134	-0.9675	10	0.39692	T	0.17	.	0.6685	0.00854	0.2757:0.3631:0.1524:0.2088	.	305	Q9P1W9	PIM2_HUMAN	F	305	ENSP00000365692:L305F	ENSP00000365692:L305F	L	-	3	2	PIM2	48656373	0.000000	0.05858	0.248000	0.24265	0.493000	0.33554	0.020000	0.13466	0.476000	0.27440	0.600000	0.82982	TTG	PIM2	-	NULL	ENSG00000102096		0.607	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	99	0.00	0	C			48771429	48771429	-1	no_errors	ENST00000376509	ensembl	human	known	69_37n	missense	76	27.62	29	SNP	0.001	G
PLK3	1263	genome.wustl.edu	37	1	45271021	45271021	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:45271021C>T	ENST00000372201.4	+	14	1958	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	573	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATCAGGCTCTCCTCATGCTGT	0.617																																						dbGAP											0													176.0	139.0	152.0					1																	45271021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1719C>T	1.37:g.45271021C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15767|Q5JR99|Q96CV1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.L573	ENST00000372201.4	37	c.1719	CCDS515.1	1																																																																																			PLK3	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom	ENSG00000173846		0.617	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	162	0.00	0	C	NM_004073		45271021	45271021	+1	no_errors	ENST00000372201	ensembl	human	known	69_37n	silent	147	27.94	57	SNP	0.001	T
PLK3	1263	genome.wustl.edu	37	1	45271308	45271308	+	Silent	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:45271308C>G	ENST00000372201.4	+	15	2138	c.1899C>G	c.(1897-1899)ctC>ctG	p.L633L	BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|PLK3_ENST00000465443.1_3'UTR|BTBD19_ENST00000450269.1_5'Flank	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	633	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCAGCGACTCCGCTATGCTC	0.637																																						dbGAP											0													67.0	65.0	66.0					1																	45271308		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1899C>G	1.37:g.45271308C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15767|Q5JR99|Q96CV1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.L633	ENST00000372201.4	37	c.1899	CCDS515.1	1																																																																																			PLK3	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom	ENSG00000173846		0.637	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	60	0.00	0	C	NM_004073		45271308	45271308	+1	no_errors	ENST00000372201	ensembl	human	known	69_37n	silent	41	31.67	19	SNP	0.003	G
PLXDC1	57125	genome.wustl.edu	37	17	37265502	37265502	+	Splice_Site	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:37265502G>A	ENST00000315392.4	-	3	609	c.398C>T	c.(397-399)tCg>tTg	p.S133L	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Splice_Site_p.S60L|PLXDC1_ENST00000444911.2_Splice_Site_p.S93L|PLXDC1_ENST00000394316.2_Splice_Site_p.S133L	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	133					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCACTCACCGAAGCCTGCCG	0.652																																						dbGAP											0													93.0	83.0	86.0					17																	37265502		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.399+1C>T	17.37:g.37265502G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.S133L	ENST00000315392.4	37	c.398	CCDS11333.1	17	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595037	0.46318	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.67	4.67	0.58626	.	0.227872	0.38897	N	0.001534	T	0.77491	0.4138	L	0.29908	0.895	0.48632	D	0.999681	D	0.89917	1.0	D	0.66497	0.944	T	0.75314	-0.3361	10	0.28530	T	0.3	-11.547	16.5248	0.84328	0.0:0.0:1.0:0.0	.	133	Q8IUK5	PXDC1_HUMAN	L	133;60;60;93;133;60;60	ENSP00000323927:S133L;ENSP00000441881:S60L;ENSP00000409687:S93L;ENSP00000377851:S133L;ENSP00000393227:S60L;ENSP00000416819:S60L	ENSP00000323927:S133L	S	-	2	0	PLXDC1	34519028	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.919000	0.63383	2.308000	0.77769	0.563000	0.77884	TCG	PLXDC1	-	NULL	ENSG00000161381		0.652	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	98	0.00	0	G	NM_020405	Missense_Mutation	37265502	37265502	-1	no_errors	ENST00000315392	ensembl	human	known	69_37n	missense	293	13.31	45	SNP	1.000	A
PPP1R27	116729	genome.wustl.edu	37	17	79792496	79792496	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:79792496C>T	ENST00000330261.4	-	2	303	c.224G>A	c.(223-225)gGa>gAa	p.G75E	FAM195B_ENST00000572645.1_5'Flank|PPP1R27_ENST00000570394.1_Missense_Mutation_p.G75E|FAM195B_ENST00000455127.2_5'Flank|FAM195B_ENST00000538396.1_5'Flank|FAM195B_ENST00000573478.1_5'Flank|FAM195B_ENST00000576431.1_5'Flank|PPP1R27_ENST00000573182.1_5'Flank|FAM195B_ENST00000575061.1_5'Flank	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	75					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TTCCAGGTTTCCAGAGAGCAC	0.637																																						dbGAP											0													144.0	115.0	125.0					17																	79792496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	16813	protein-coding gene	gene with protein product			"""dysferlin-interacting protein 1 (toonin)"", ""dysferlin interacting protein 1 (toonin)"", ""dysferlin interacting protein 1"""	DYSFIP1			Standard	NM_001007533		Approved	toonin	uc002kbj.1	Q86WC6		ENST00000330261.4:c.224G>A	17.37:g.79792496C>T	ENSP00000331065:p.Gly75Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G75E	ENST00000330261.4	37	c.224	CCDS32767.1	17	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722829	0.48728	.	.	ENSG00000182676	ENST00000330261	T	0.47177	0.85	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.85197	2.74	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.72701	-0.4214	10	0.31617	T	0.26	.	17.581	0.87968	0.0:1.0:0.0:0.0	.	75	Q86WC6	PPR27_HUMAN	E	75	ENSP00000331065:G75E	ENSP00000331065:G75E	G	-	2	0	DYSFIP1	77385785	1.000000	0.71417	0.997000	0.53966	0.824000	0.46624	5.475000	0.66787	2.251000	0.74343	0.561000	0.74099	GGA	PPP1R27	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000182676		0.637	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R27	HGNC	protein_coding	OTTHUMT00000439692.1	190	0.00	0	C	NM_001007533		79792496	79792496	-1	no_errors	ENST00000330261	ensembl	human	known	69_37n	missense	127	28.65	51	SNP	1.000	T
PPP1R3A	5506	genome.wustl.edu	37	7	113558451	113558451	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr7:113558451C>G	ENST00000284601.3	-	1	669	c.601G>C	c.(601-603)Gat>Cat	p.D201H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	201	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTGCCATCTTTTTGATAA	0.318																																						dbGAP											0													102.0	97.0	99.0					7																	113558451		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.601G>C	7.37:g.113558451C>G	ENSP00000284601:p.Asp201His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.D201H	ENST00000284601.3	37	c.601	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553843	0.65425	.	.	ENSG00000154415	ENST00000284601	T	0.63417	-0.04	5.87	5.87	0.94306	Putative phosphatase regulatory subunit (2);	0.358632	0.33005	N	0.005390	T	0.73938	0.3651	L	0.38175	1.15	0.50171	D	0.999856	D	0.89917	1.0	D	0.75484	0.986	T	0.74484	-0.3650	10	0.87932	D	0	-0.0861	20.5827	0.99408	0.0:1.0:0.0:0.0	.	201	Q16821	PPR3A_HUMAN	H	201	ENSP00000284601:D201H	ENSP00000284601:D201H	D	-	1	0	PPP1R3A	113345687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.593000	0.54001	2.941000	0.99782	0.655000	0.94253	GAT	PPP1R3A	-	pfam_CBM_21,pfscan_CBM_21	ENSG00000154415		0.318	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	155	0.00	0	C	NM_002711		113558451	113558451	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	missense	170	11.46	22	SNP	1.000	G
PRMT9	90826	genome.wustl.edu	37	4	148564057	148564057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:148564057G>A	ENST00000322396.6	-	10	2322	c.2080C>T	c.(2080-2082)Cag>Tag	p.Q694*	PRMT10_ENST00000541232.1_Nonsense_Mutation_p.Q581*|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		694	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AGCACATACTGAGGAAAGATC	0.428																																						dbGAP											0													125.0	121.0	122.0					4																	148564057		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000322396.6:c.2080C>T	4.37:g.148564057G>A	ENSP00000314396:p.Gln694*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Nonsense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q694*	ENST00000322396.6	37	c.2080	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.725469	0.98929	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	.	.	.	5.85	5.85	0.93711	.	0.113470	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-12.9314	20.1731	0.98165	0.0:0.0:1.0:0.0	.	.	.	.	X	694;581	.	ENSP00000314396:Q694X	Q	-	1	0	PRMT10	148783507	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.306000	0.72810	2.768000	0.95171	0.655000	0.94253	CAG	PRMT10	-	NULL	ENSG00000164169		0.428	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	148	0.00	0	G			148564057	148564057	-1	no_errors	ENST00000322396	ensembl	human	known	69_37n	nonsense	102	23.31	31	SNP	1.000	A
PRRC2C	23215	genome.wustl.edu	37	1	171535915	171535915	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:171535915C>G	ENST00000338920.4	+	22	6722	c.6485C>G	c.(6484-6486)tCa>tGa	p.S2162*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.S2164*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.S2164*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.S2162*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2162					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAAGCAGTCTCAGAAATGTCT	0.448																																						dbGAP											0													77.0	69.0	71.0					1																	171535915		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6485C>G	1.37:g.171535915C>G	ENSP00000343629:p.Ser2162*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.S2164*	ENST00000338920.4	37	c.6491	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.777546|13.777546	0.99762|0.99762	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.614895	.|0.13344	.|N	.|0.394919	T|.	0.63757|.	0.2538|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65080|.	-0.6255|.	3|.	.|0.54805	.|T	.|0.06	.|.	16.1475|16.1475	0.81580|0.81580	0.0:0.8577:0.1423:0.0|0.0:0.8577:0.1423:0.0	.|.	.|.	.|.	.|.	E|X	710|2164;2116;2162;2164;2162;1919	.|.	.|ENSP00000343629:S2162X	Q|S	+|+	1|2	0|0	PRRC2C|PRRC2C	169802539|169802539	0.579000|0.579000	0.26725|0.26725	0.832000|0.832000	0.32986|0.32986	0.515000|0.515000	0.34225|0.34225	4.625000|4.625000	0.61262|0.61262	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	CAG|TCA	PRRC2C	-	NULL	ENSG00000117523		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	73	0.00	0	C	NM_015172		171535915	171535915	+1	no_errors	ENST00000392078	ensembl	human	known	69_37n	nonsense	75	22.68	22	SNP	0.600	G
RAB37	326624	genome.wustl.edu	37	17	72739463	72739463	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:72739463C>G	ENST00000392613.5	+	5	406	c.350C>G	c.(349-351)tCt>tGt	p.S117C	RAB37_ENST00000402449.4_Missense_Mutation_p.S110C|RAB37_ENST00000392612.3_Missense_Mutation_p.S80C|RAB37_ENST00000392614.4_Missense_Mutation_p.S122C|RAB37_ENST00000392610.1_Missense_Mutation_p.S117C|RAB37_ENST00000392615.5_Missense_Mutation_p.S85C|RAB37_ENST00000528438.1_Missense_Mutation_p.S90C|RAB37_ENST00000340415.3_Missense_Mutation_p.S110C	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	117					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AACAAATCTTCTTTCGACAAC	0.572																																						dbGAP											0													250.0	203.0	219.0					17																	72739463		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.350C>G	17.37:g.72739463C>G	ENSP00000376389:p.Ser117Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,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.S122C	ENST00000392613.5	37	c.365	CCDS32722.1	17	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821492	0.50633	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392612;ENST00000392610	D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	H	0.97265	3.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97134	0.9820	10	0.87932	D	0	.	17.2219	0.86960	0.0:1.0:0.0:0.0	.	80;85;122;110;117;110;110	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2;A8MUU7	.;.;.;.;RAB37_HUMAN;.;.	C	110;110;110;110;90;85;122;117;117;80;117	ENSP00000341354:S110C;ENSP00000383934:S110C;ENSP00000432086:S90C;ENSP00000376391:S85C;ENSP00000376390:S122C;ENSP00000376389:S117C;ENSP00000376388:S80C;ENSP00000376387:S117C	ENSP00000341354:S110C	S	+	2	0	RAB37	70251058	1.000000	0.71417	0.981000	0.43875	0.078000	0.17371	7.176000	0.77643	2.357000	0.79964	0.650000	0.86243	TCT	RAB37	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000172794		0.572	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB37	HGNC	protein_coding	OTTHUMT00000258872.2	243	0.41	1	C	NM_175738		72739463	72739463	+1	no_errors	ENST00000392614	ensembl	human	known	69_37n	missense	148	34.51	78	SNP	1.000	G
RARB	5915	genome.wustl.edu	37	3	25502710	25502710	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:25502710G>C	ENST00000404969.1	+	2	205	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.E62Q|RARB_ENST00000437042.2_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	69	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACCAGCTCTGAGGAACTCGT	0.458																																						dbGAP											0													97.0	103.0	101.0					3																	25502710		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.205G>C	3.37:g.25502710G>C	ENSP00000385865:p.Glu69Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.E69Q	ENST00000404969.1	37	c.205		3	.	.	.	.	.	.	.	.	.	.	G	34	5.343176	0.95783	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92595	-2.86;-3.07;-3.05	5.71	5.71	0.89125	.	0.262485	0.38436	N	0.001697	D	0.95046	0.8396	L	0.56280	1.765	0.58432	D	0.999992	D;D	0.76494	0.999;0.977	D;P	0.67900	0.954;0.864	D	0.95006	0.8147	10	0.72032	D	0.01	.	19.9109	0.97025	0.0:0.0:1.0:0.0	.	69;62	P10826;F1D8S6	RARB_HUMAN;.	Q	69;69;69;62	ENSP00000373282:E69Q;ENSP00000385865:E69Q;ENSP00000332296:E62Q	ENSP00000332296:E62Q	E	+	1	0	RARB	25477714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.723000	0.93209	0.644000	0.83932	GAG	RARB	-	prints_Retinoic_acid_rcpt	ENSG00000077092		0.458	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		271	0.00	0	G	NM_000965, NM_016152		25502710	25502710	+1	no_errors	ENST00000404969	ensembl	human	known	69_37n	missense	172	31.47	79	SNP	1.000	C
RNF121	55298	genome.wustl.edu	37	11	71706538	71706538	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr11:71706538G>C	ENST00000361756.3	+	8	1165	c.804G>C	c.(802-804)aaG>aaC	p.K268N	RNF121_ENST00000530137.1_Missense_Mutation_p.K236N|RNF121_ENST00000393713.3_Missense_Mutation_p.R195T|RNF121_ENST00000545854.1_Missense_Mutation_p.K187N|RNF121_ENST00000533380.1_Missense_Mutation_p.K108N	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	268						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCGTGGGAAAGAAGCAAACGT	0.562																																						dbGAP											0													146.0	111.0	123.0					11																	71706538		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.804G>C	11.37:g.71706538G>C	ENSP00000354571:p.Lys268Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.K268N	ENST00000361756.3	37	c.804	CCDS8203.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.458654|5.458654	0.96240|0.96240	.|.	.|.	ENSG00000137522|ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000545854;ENST00000530137|ENST00000393713	T;T;T;T|T	0.37411|0.49432	1.2;1.2;1.2;1.2|0.78	6.06|6.06	6.06|6.06	0.98353|0.98353	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57740|0.57740	0.2074|0.2074	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.57899	1.0;1.0|0.981	D;D|D	0.97110|0.66351	1.0;0.999|0.943	T|T	0.41052|0.41052	-0.9530|-0.9530	10|9	0.72032|0.14252	D|T	0.01|0.57	-11.248|-11.248	19.3923|19.3923	0.94587|0.94587	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236;268|195	G3V148;Q9H920|C9JQY5	.;RN121_HUMAN|.	N|T	268;108;187;236|195	ENSP00000354571:K268N;ENSP00000433574:K108N;ENSP00000443799:K187N;ENSP00000431286:K236N|ENSP00000377316:R195T	ENSP00000354571:K268N|ENSP00000377316:R195T	K|R	+|+	3|2	2|0	RNF121|RNF121	71384186|71384186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.375000|7.375000	0.79646|0.79646	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	AAG|AGA	RNF121	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000137522		0.562	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF121	HGNC	protein_coding	OTTHUMT00000347132.1	240	0.00	0	G	NM_018320		71706538	71706538	+1	no_errors	ENST00000361756	ensembl	human	known	69_37n	missense	144	35.43	79	SNP	1.000	C
SCAF4	57466	genome.wustl.edu	37	21	33043723	33043724	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr21:33043723_33043724insCT	ENST00000286835.7	-	20	3814_3815	c.3432_3433insAG	c.(3430-3435)gaggctfs	p.A1145fs	SCAF4_ENST00000399804.1_Frame_Shift_Ins_p.A1123fs|SCAF4_ENST00000434667.3_Frame_Shift_Ins_p.A1130fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1145						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAACGAGGAGCCTCTGCTGCTG	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3431_3432dupAG	21.37:g.33043726_33043727dupCT	ENSP00000286835:p.Ala1145fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Ins	INS	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.A1144fs	ENST00000286835.7	37	c.3433_3432	CCDS33537.1	21																																																																																			SCAF4	-	NULL	ENSG00000156304		0.510	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	104	0.00	0	-	XM_047889		33043723	33043724	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	frame_shift_ins	54	29.87	23	INS	1.000:1.000	CT
SCN1A	6323	genome.wustl.edu	37	2	166848244	166848244	+	Silent	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr2:166848244G>C	ENST00000303395.4	-	26	5540	c.5541C>G	c.(5539-5541)ctC>ctG	p.L1847L	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L1819L|SCN1A_ENST00000423058.2_Silent_p.L1847L|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L1836L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1847					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAATGAGCTGGAGTTTGTTTG	0.458																																						dbGAP											0													95.0	96.0	96.0					2																	166848244		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5541C>G	2.37:g.166848244G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.L1847	ENST00000303395.4	37	c.5541	CCDS54413.1	2																																																																																			SCN1A	-	NULL	ENSG00000144285		0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	117	0.00	0	G	NM_006920		166848244	166848244	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	silent	107	24.11	34	SNP	0.872	C
SEC24B	10427	genome.wustl.edu	37	4	110448569	110448569	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:110448569C>T	ENST00000265175.5	+	18	3112	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I	SEC24B_ENST00000399100.2_Silent_p.I984I|SEC24B_ENST00000504968.2_Silent_p.I1049I	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1019					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AAGCTGCCATCTGCCTTCTGG	0.428																																						dbGAP											0													125.0	116.0	119.0					4																	110448569		1896	4121	6017	-	-	-	SO:0001819	synonymous_variant	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3057C>T	4.37:g.110448569C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.I1019	ENST00000265175.5	37	c.3057	CCDS47124.1	4																																																																																			SEC24B	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom	ENSG00000138802		0.428	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	208	0.00	0	C			110448569	110448569	+1	no_errors	ENST00000265175	ensembl	human	known	69_37n	silent	122	32.60	59	SNP	1.000	T
SLK	9748	genome.wustl.edu	37	10	105779531	105779531	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr10:105779531G>A	ENST00000369755.3	+	16	3717	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	SLK_ENST00000335753.4_Missense_Mutation_p.E1027K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1058					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAGACTTATTGAGGAATTGAA	0.403																																					NSCLC(111;540 1651 1927 4474 17706)	dbGAP											0													103.0	106.0	105.0					10																	105779531		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3172G>A	10.37:g.105779531G>A	ENSP00000358770:p.Glu1058Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.E1058K	ENST00000369755.3	37	c.3172	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.587919	0.96590	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.47177	0.85;0.85	5.2	5.2	0.72013	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	L	0.56340	1.77	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.71870	0.958;0.975	T	0.67393	-0.5682	10	0.87932	D	0	.	18.9297	0.92560	0.0:0.0:1.0:0.0	.	1027;1058	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	K	1027;1058	ENSP00000336824:E1027K;ENSP00000358770:E1058K	ENSP00000336824:E1027K	E	+	1	0	SLK	105769521	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.648000	0.98483	2.712000	0.92718	0.484000	0.47621	GAG	SLK	-	pfam_PKK,superfamily_Kinase-like_dom	ENSG00000065613		0.403	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	48	0.00	0	G	NM_014720		105779531	105779531	+1	no_errors	ENST00000369755	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	1.000	A
SLK	9748	genome.wustl.edu	37	10	105779657	105779657	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr10:105779657C>G	ENST00000369755.3	+	16	3843	c.3298C>G	c.(3298-3300)Cag>Gag	p.Q1100E	SLK_ENST00000335753.4_Missense_Mutation_p.Q1069E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1100					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CACACCAGATCAGGACCGTGA	0.373																																					NSCLC(111;540 1651 1927 4474 17706)	dbGAP											0													106.0	105.0	105.0					10																	105779657		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3298C>G	10.37:g.105779657C>G	ENSP00000358770:p.Gln1100Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.Q1100E	ENST00000369755.3	37	c.3298	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517237	0.44763	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.28895	1.59;1.59	5.86	4.95	0.65309	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	N	0.08118	0	0.58432	D	0.999995	D;D	0.65815	0.994;0.995	D;D	0.67900	0.923;0.954	T	0.19484	-1.0304	10	0.13108	T	0.6	.	17.0137	0.86413	0.0:0.8726:0.1274:0.0	.	1069;1100	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	E	1069;1100	ENSP00000336824:Q1069E;ENSP00000358770:Q1100E	ENSP00000336824:Q1069E	Q	+	1	0	SLK	105769647	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	1.459000	0.47892	0.585000	0.79938	CAG	SLK	-	pfam_PKK,superfamily_Kinase-like_dom	ENSG00000065613		0.373	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	75	0.00	0	C	NM_014720		105779657	105779657	+1	no_errors	ENST00000369755	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	1.000	G
SMARCA1	6594	genome.wustl.edu	37	X	128631942	128631942	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:128631942G>C	ENST00000371122.4	-	11	1513	c.1384C>G	c.(1384-1386)Cat>Gat	p.H462D	SMARCA1_ENST00000371123.1_Missense_Mutation_p.H462D|SMARCA1_ENST00000371121.3_Missense_Mutation_p.H462D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	462					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AGATATGGATGATTACAACAC	0.378																																						dbGAP											0													111.0	91.0	97.0					X																	128631942		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1384C>G	X.37:g.128631942G>C	ENSP00000360163:p.His462Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H462D	ENST00000371122.4	37	c.1384	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	g	22.2	4.254957	0.80135	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.77	4.77	0.60923	SNF2-related (1);	0.000000	0.64402	U	0.000014	D	0.87204	0.6119	M	0.77712	2.385	0.80722	D	1	D;D;B;D	0.59767	0.986;0.986;0.337;0.986	D;D;B;D	0.63113	0.911;0.911;0.17;0.911	D	0.89430	0.3716	10	0.87932	D	0	-13.7235	17.1184	0.86695	0.0:0.0:1.0:0.0	.	441;462;462;462	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	D	462;462;462;441	ENSP00000360162:H462D;ENSP00000360164:H462D;ENSP00000360163:H462D;ENSP00000404275:H441D	ENSP00000360162:H462D	H	-	1	0	SMARCA1	128459623	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.765000	0.98953	1.961000	0.56991	0.279000	0.19357	CAT	SMARCA1	-	pfam_SNF2_N	ENSG00000102038		0.378	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	115	0.00	0	G	NM_003069		128631942	128631942	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	missense	101	31.29	46	SNP	1.000	C
SMPD1	6609	genome.wustl.edu	37	11	6412017	6412017	+	Silent	SNP	T	T	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr11:6412017T>G	ENST00000342245.4	+	1	357	c.189T>G	c.(187-189)ccT>ccG	p.P63P	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000299397.3_Silent_p.P63P|SMPD1_ENST00000527275.1_Silent_p.P63P|SMPD1_ENST00000356761.2_Silent_p.P63P	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	61					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	AGGCTCACCCTCTTTCTCCCC	0.642																																						dbGAP											0													48.0	51.0	50.0					11																	6412017		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.189T>G	11.37:g.6412017T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	pirsf_Sphingomy_PDE,pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.P63	ENST00000342245.4	37	c.189	CCDS44531.1	11																																																																																			SMPD1	-	pirsf_Sphingomy_PDE	ENSG00000166311		0.642	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	62	0.00	0	T	NM_000543		6412017	6412017	+1	no_errors	ENST00000342245	ensembl	human	known	69_37n	silent	50	35.90	28	SNP	0.434	G
SNX13	23161	genome.wustl.edu	37	7	17913164	17913164	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr7:17913164C>T	ENST00000409389.1	-	8	912	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	SNX13_ENST00000428135.3_Missense_Mutation_p.R247Q			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	247	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GACAAAGTATCGCATGATCTT	0.353																																						dbGAP											0													80.0	73.0	75.0					7																	17913164		1809	4070	5879	-	-	-	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.740G>A	7.37:g.17913164C>T	ENSP00000386705:p.Arg247Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.R247Q	ENST00000409389.1	37	c.740		7	.	.	.	.	.	.	.	.	.	.	C	36	5.612229	0.96637	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.24151	1.87;2.14	5.93	5.93	0.95920	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.053398	0.85682	D	0.000000	T	0.57651	0.2068	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.996	T	0.55528	-0.8127	10	0.44086	T	0.13	-1.9424	20.3465	0.98790	0.0:1.0:0.0:0.0	.	44;247;247;247	B3KN60;Q9Y5W8;B8ZZT9;Q9Y5W8-2	.;SNX13_HUMAN;.;.	Q	247;247;295	ENSP00000386705:R247Q;ENSP00000398789:R247Q	ENSP00000242044:R295Q	R	-	2	0	SNX13	17879689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.705000	0.68355	2.798000	0.96311	0.655000	0.94253	CGA	SNX13	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000071189		0.353	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	144	0.00	0	C	NM_015132		17913164	17913164	-1	no_errors	ENST00000428135	ensembl	human	novel	69_37n	missense	98	29.50	41	SNP	1.000	T
SPICE1	152185	genome.wustl.edu	37	3	113172603	113172603	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:113172603G>C	ENST00000295872.4	-	14	2111	c.1852C>G	c.(1852-1854)Cag>Gag	p.Q618E		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	618					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AAAGGAGCCTGAGTTTTGTTC	0.458																																						dbGAP											0													134.0	134.0	134.0					3																	113172603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1852C>G	3.37:g.113172603G>C	ENSP00000295872:p.Gln618Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.Q618E	ENST00000295872.4	37	c.1852	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	G	3.157	-0.172994	0.06421	.	.	ENSG00000163611	ENST00000295872	T	0.30714	1.52	5.53	3.71	0.42584	.	0.639318	0.16946	N	0.193103	T	0.26195	0.0639	L	0.50919	1.6	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.14578	0.011;0.006	T	0.27839	-1.0062	10	0.09590	T	0.72	-1.0899	12.5079	0.55991	0.0:0.3226:0.6774:0.0	.	514;618	B3KX77;Q8N0Z3	.;SPICE_HUMAN	E	618	ENSP00000295872:Q618E	ENSP00000295872:Q618E	Q	-	1	0	SPICE1	114655293	0.807000	0.29009	0.012000	0.15200	0.649000	0.38597	2.877000	0.48506	0.669000	0.31146	-0.310000	0.09108	CAG	SPICE1	-	NULL	ENSG00000163611		0.458	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	292	0.00	0	G	NM_144718		113172603	113172603	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	missense	200	35.06	108	SNP	0.053	C
SRP72	6731	genome.wustl.edu	37	4	57355616	57355616	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr4:57355616C>T	ENST00000342756.5	+	13	2008	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	SRP72_ENST00000510663.1_Silent_p.F368F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	429					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TTGAGGTCTTCACACAAGCTA	0.353																																						dbGAP											0													125.0	113.0	117.0					4																	57355616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1287C>T	4.37:g.57355616C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9Z8|Q7Z3C0	Silent	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F429	ENST00000342756.5	37	c.1287	CCDS3506.1	4																																																																																			SRP72	-	smart_TPR_repeat	ENSG00000174780		0.353	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7	212	0.00	0	C			57355616	57355616	+1	no_errors	ENST00000342756	ensembl	human	known	69_37n	silent	129	33.85	66	SNP	1.000	T
STAT5B	6777	genome.wustl.edu	37	17	40370189	40370189	+	Silent	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:40370189G>C	ENST00000293328.3	-	9	1317	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	383					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTCGTTCTTGAGCAGAGACT	0.552																																						dbGAP											0													118.0	92.0	101.0					17																	40370189		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1149C>G	17.37:g.40370189G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWS8	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L383	ENST00000293328.3	37	c.1149	CCDS11423.1	17																																																																																			STAT5B	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000173757		0.552	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	179	0.00	0	G	NM_012448		40370189	40370189	-1	no_errors	ENST00000293328	ensembl	human	known	69_37n	silent	47	51.55	50	SNP	1.000	C
SRSF1	6426	genome.wustl.edu	37	17	56084325	56084325	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:56084325G>A	ENST00000258962.4	-	1	382	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SRSF1_ENST00000585096.1_Silent_p.F58F|SRSF1_ENST00000582730.2_Silent_p.F58F|SRSF1_ENST00000584773.1_Silent_p.F58F|SRSF1_ENST00000581497.1_5'Flank|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	58	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAACTCAACGAAGGCGAAGG	0.577																																						dbGAP											0													103.0	99.0	101.0					17																	56084325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.174C>T	17.37:g.56084325G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Z7|D3DTZ3|Q13809	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F58	ENST00000258962.4	37	c.174	CCDS11600.1	17																																																																																			SRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000136450		0.577	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1	66	0.00	0	G	NM_006924		56084325	56084325	-1	no_errors	ENST00000258962	ensembl	human	known	69_37n	silent	67	29.47	28	SNP	1.000	A
TAB3	257397	genome.wustl.edu	37	X	30872359	30872359	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:30872359C>G	ENST00000378933.1	-	3	1600	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.E475Q|TAB3_ENST00000378930.3_Missense_Mutation_p.E475Q|TAB3_ENST00000288422.2_Missense_Mutation_p.E475Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	475					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCAGAGCGCTCTTCTTGGTCC	0.443																																					Pancreas(164;1598 1985 29022 43301 49529)	dbGAP											0													88.0	84.0	86.0					X																	30872359		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1423G>C	X.37:g.30872359C>G	ENSP00000368215:p.Glu475Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.E475Q	ENST00000378933.1	37	c.1423	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247349	0.22880	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73575	-0.73;-0.73;-0.73;-0.76	4.94	4.94	0.65067	.	0.210036	0.48767	D	0.000178	T	0.68659	0.3025	N	0.08118	0	0.39379	D	0.96622	D;B	0.60575	0.988;0.01	P;B	0.59056	0.851;0.015	T	0.73075	-0.4097	10	0.39692	T	0.17	-3.1394	13.335	0.60512	0.0:0.8457:0.1542:0.0	.	475;475	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Q	475	ENSP00000368215:E475Q;ENSP00000368212:E475Q;ENSP00000288422:E475Q;ENSP00000368214:E475Q	ENSP00000288422:E475Q	E	-	1	0	TAB3	30782280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.460000	0.66691	2.173000	0.68751	0.523000	0.50628	GAG	TAB3	-	NULL	ENSG00000157625		0.443	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	186	0.00	0	C	NM_152787		30872359	30872359	-1	no_errors	ENST00000288422	ensembl	human	known	69_37n	missense	124	36.08	70	SNP	1.000	G
TAF1L	138474	genome.wustl.edu	37	9	32633918	32633918	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr9:32633918G>C	ENST00000242310.4	-	1	1749	c.1660C>G	c.(1660-1662)Ctg>Gtg	p.L554V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	554					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCTTCTTCAGAGATGATTCC	0.463																																						dbGAP											0													199.0	204.0	202.0					9																	32633918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1660C>G	9.37:g.32633918G>C	ENSP00000418379:p.Leu554Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L554V	ENST00000242310.4	37	c.1660	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910682	0.33721	.	.	ENSG00000122728	ENST00000242310	T	0.07567	3.18	1.16	1.16	0.20824	.	0.085748	0.49305	D	0.000145	T	0.02012	0.0063	N	0.01729	-0.75	0.34450	D	0.700628	B	0.13145	0.007	B	0.12156	0.007	T	0.42616	-0.9441	10	0.02654	T	1	.	4.0426	0.09758	0.2822:0.0:0.7178:0.0	.	554	Q8IZX4	TAF1L_HUMAN	V	554	ENSP00000418379:L554V	ENSP00000418379:L554V	L	-	1	2	TAF1L	32623918	0.801000	0.28930	0.987000	0.45799	0.655000	0.38815	-0.069000	0.11542	0.507000	0.28148	0.195000	0.17529	CTG	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	254	0.00	0	G			32633918	32633918	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	201	30.21	87	SNP	0.998	C
TCP11L2	255394	genome.wustl.edu	37	12	106734763	106734763	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:106734763C>G	ENST00000299045.3	+	9	1476	c.1302C>G	c.(1300-1302)atC>atG	p.I434M		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	434										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACAATCCTATCTGGTCCTTGA	0.358																																						dbGAP											0													168.0	164.0	166.0					12																	106734763		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1302C>G	12.37:g.106734763C>G	ENSP00000299045:p.Ile434Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA65|G3V1Y9	Missense_Mutation	SNP	pfam_Tcp11	p.I434M	ENST00000299045.3	37	c.1302	CCDS9104.1	12	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875584	0.51695	.	.	ENSG00000166046	ENST00000299045	T	0.12879	2.64	5.58	3.69	0.42338	.	0.287998	0.39909	N	0.001223	T	0.32071	0.0817	M	0.73598	2.24	0.80722	D	1	P	0.44877	0.845	P	0.62298	0.9	T	0.01212	-1.1417	10	0.54805	T	0.06	0.1166	8.3907	0.32526	0.0:0.7525:0.0:0.2475	.	434	Q8N4U5	T11L2_HUMAN	M	434	ENSP00000299045:I434M	ENSP00000299045:I434M	I	+	3	3	TCP11L2	105258893	0.848000	0.29623	0.554000	0.28268	0.995000	0.86356	0.929000	0.28844	0.645000	0.30675	0.557000	0.71058	ATC	TCP11L2	-	pfam_Tcp11	ENSG00000166046		0.358	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L2	HGNC	protein_coding	OTTHUMT00000407206.1	166	0.00	0	C	NM_152772		106734763	106734763	+1	no_errors	ENST00000299045	ensembl	human	known	69_37n	missense	144	28.71	58	SNP	0.856	G
TGDS	23483	genome.wustl.edu	37	13	95232153	95232153	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr13:95232153C>T	ENST00000261296.5	-	7	730	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	204					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TTTACCTTTTCTGGATATTGA	0.279																																						dbGAP											0													79.0	81.0	80.0					13																	95232153		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.610G>A	13.37:g.95232153C>T	ENSP00000261296:p.Glu204Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd	p.E204K	ENST00000261296.5	37	c.610	CCDS9471.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.258279	0.95368	.	.	ENSG00000088451	ENST00000261296	D	0.93488	-3.23	6.06	6.06	0.98353	NAD-dependent epimerase/dehydratase (1);	0.144737	0.64402	D	0.000010	D	0.97297	0.9116	M	0.86953	2.85	0.58432	D	0.999996	D	0.76494	0.999	D	0.72338	0.977	D	0.97183	0.9852	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	204	O95455	TGDS_HUMAN	K	204	ENSP00000261296:E204K	ENSP00000261296:E204K	E	-	1	0	TGDS	94030154	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.989000	0.70587	2.880000	0.98712	0.650000	0.86243	GAA	TGDS	-	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like	ENSG00000088451		0.279	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGDS	HGNC	protein_coding	OTTHUMT00000106904.2	154	0.00	0	C	NM_014305		95232153	95232153	-1	no_errors	ENST00000261296	ensembl	human	known	69_37n	missense	138	30.30	60	SNP	1.000	T
TGM4	7047	genome.wustl.edu	37	3	44945471	44945471	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:44945471G>A	ENST00000296125.4	+	9	1135	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	356					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCGCAGGAGCGAAGCCAGGGT	0.627																																						dbGAP											0													57.0	60.0	59.0					3																	44945471		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1067G>A	3.37:g.44945471G>A	ENSP00000296125:p.Arg356Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.R356Q	ENST00000296125.4	37	c.1067	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	G	8.428	0.847899	0.17034	.	.	ENSG00000163810	ENST00000296125	T	0.24908	1.83	2.04	0.606	0.17559	.	2.102490	0.04012	U	0.298409	T	0.11879	0.0289	N	0.13235	0.315	0.21147	N	0.999774	B	0.31548	0.328	B	0.17433	0.018	T	0.16276	-1.0408	10	0.13470	T	0.59	.	3.9662	0.09433	0.1875:0.0:0.2016:0.6109	.	356	P49221	TGM4_HUMAN	Q	356	ENSP00000296125:R356Q	ENSP00000296125:R356Q	R	+	2	0	TGM4	44920475	0.000000	0.05858	0.034000	0.17996	0.102000	0.19082	-0.691000	0.05133	-0.018000	0.14079	0.462000	0.41574	CGA	TGM4	-	NULL	ENSG00000163810		0.627	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	29	0.00	0	G	NM_003241		44945471	44945471	+1	no_errors	ENST00000296125	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	0.937	A
THAP7	80764	genome.wustl.edu	37	22	21354267	21354267	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr22:21354267C>G	ENST00000215742.4	-	4	1006	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.E278Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	278					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGTGCCCGCTCCTGCTGCAGC	0.662																																						dbGAP											0													28.0	30.0	29.0					22																	21354267		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.832G>C	22.37:g.21354267C>G	ENSP00000215742:p.Glu278Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD97|D3DX40	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E278Q	ENST00000215742.4	37	c.832	CCDS13787.1	22	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539327	0.85917	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.97529	-4.42;-4.42	4.99	4.99	0.66335	.	0.617263	0.14933	N	0.289948	D	0.96231	0.8771	N	0.14661	0.345	0.43351	D	0.99541	D	0.57899	0.981	D	0.65140	0.932	D	0.95823	0.8851	10	0.46703	T	0.11	-16.0389	15.7968	0.78416	0.0:1.0:0.0:0.0	.	278	Q9BT49	THAP7_HUMAN	Q	278	ENSP00000215742:E278Q;ENSP00000382084:E278Q	ENSP00000215742:E278Q	E	-	1	0	THAP7	19684267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.059000	0.49947	2.580000	0.87095	0.655000	0.94253	GAG	THAP7	-	NULL	ENSG00000184436		0.662	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	15	0.00	0	C	NM_030573		21354267	21354267	-1	no_errors	ENST00000215742	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	G
THOC2	57187	genome.wustl.edu	37	X	122820419	122820419	+	Silent	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chrX:122820419C>T	ENST00000245838.8	-	8	778	c.747G>A	c.(745-747)ggG>ggA	p.G249G	THOC2_ENST00000355725.4_Silent_p.G249G|THOC2_ENST00000491737.1_Silent_p.G134G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	249					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGAATTTGAACCCAAGAATAT	0.299																																						dbGAP											0													102.0	89.0	93.0					X																	122820419		1837	4082	5919	-	-	-	SO:0001819	synonymous_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.747G>A	X.37:g.122820419C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.G249	ENST00000245838.8	37	c.747	CCDS43988.1	X																																																																																			THOC2	-	NULL	ENSG00000125676		0.299	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	155	0.00	0	C			122820419	122820419	-1	no_errors	ENST00000245838	ensembl	human	known	69_37n	silent	134	26.37	48	SNP	0.652	T
TINAG	27283	genome.wustl.edu	37	6	54191643	54191643	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr6:54191643G>C	ENST00000259782.4	+	4	649	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TINAG_ENST00000370864.3_Missense_Mutation_p.E167Q|TINAG_ENST00000370869.3_Missense_Mutation_p.E181Q	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	185					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AATGACTTTAGAAGATGGTTT	0.383																																						dbGAP											0													145.0	133.0	137.0					6																	54191643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.553G>C	6.37:g.54191643G>C	ENSP00000259782:p.Glu185Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.E185Q	ENST00000259782.4	37	c.553	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880967	0.72294	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.52295	0.67;0.67;0.67	5.82	4.94	0.65067	.	0.162599	0.43579	D	0.000550	T	0.55049	0.1896	M	0.76002	2.32	0.34542	D	0.71034	D	0.69078	0.997	D	0.64042	0.921	T	0.63726	-0.6572	10	0.51188	T	0.08	.	12.8097	0.57634	0.0:0.164:0.836:0.0	.	185	Q9UJW2	TINAG_HUMAN	Q	181;135;185;167	ENSP00000359906:E181Q;ENSP00000259782:E185Q;ENSP00000359901:E167Q	ENSP00000259782:E185Q	E	+	1	0	TINAG	54299602	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	2.849000	0.48286	1.424000	0.47217	0.643000	0.83706	GAA	TINAG	-	NULL	ENSG00000137251		0.383	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	196	0.00	0	G	NM_014464		54191643	54191643	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	missense	152	26.92	56	SNP	1.000	C
TOMM20L	387990	genome.wustl.edu	37	14	58875253	58875253	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr14:58875253G>C	ENST00000360945.2	+	5	454	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000395159.2_3'UTR|TIMM9_ENST00000216463.4_5'Flank	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	138					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						CCAGCAATTTGAGGCAGACAT	0.393																																						dbGAP											0													142.0	133.0	136.0					14																	58875253		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type I"""					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.412G>C	14.37:g.58875253G>C	ENSP00000354204:p.Glu138Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPR0	Missense_Mutation	SNP	pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related	p.E138Q	ENST00000360945.2	37	c.412	CCDS9734.1	14	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594627	0.28445	.	.	ENSG00000196860	ENST00000360945	T	0.29655	1.56	5.51	5.51	0.81932	Mitochondrial outer membrane translocase complex, subunit Tom20 domain (2);	0.329650	0.21815	N	0.068706	T	0.44582	0.1300	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04579	-1.0941	10	0.13853	T	0.58	-4.3906	14.2112	0.65767	0.0:0.1494:0.8506:0.0	.	138	Q6UXN7	TO20L_HUMAN	Q	138	ENSP00000354204:E138Q	ENSP00000354204:E138Q	E	+	1	0	TOMM20L	57945006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.547000	0.23299	2.881000	0.98747	0.650000	0.86243	GAG	TOMM20L	-	superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan	ENSG00000196860		0.393	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM20L	HGNC	protein_coding	OTTHUMT00000276937.1	204	0.00	0	G	NM_207377		58875253	58875253	+1	no_errors	ENST00000360945	ensembl	human	known	69_37n	missense	162	27.68	62	SNP	1.000	C
TPCN1	53373	genome.wustl.edu	37	12	113731077	113731077	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr12:113731077C>T	ENST00000335509.6	+	27	2571	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y	TPCN1_ENST00000392569.4_Missense_Mutation_p.H685Y|TPCN1_ENST00000546787.1_3'UTR|TPCN1_ENST00000550785.1_Missense_Mutation_p.H825Y|TPCN1_ENST00000541517.1_Missense_Mutation_p.H825Y	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	753					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTTAGCAACATTCCATGGT	0.582																																						dbGAP											0													210.0	213.0	212.0					12																	113731077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2257C>T	12.37:g.113731077C>T	ENSP00000335300:p.His753Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.H825Y	ENST00000335509.6	37	c.2473	CCDS31908.1	12	.	.	.	.	.	.	.	.	.	.	C	1.764	-0.486174	0.04352	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.27	2.92	0.33932	.	0.944962	0.08954	N	0.869685	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	P;B	0.34546	0.456;0.059	B;B	0.24701	0.034;0.055	T	0.15407	-1.0438	10	0.59425	D	0.04	-1.2342	3.5234	0.07751	0.5371:0.2712:0.0703:0.1214	.	825;753	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	Y	753;825;825;685	ENSP00000335300:H753Y;ENSP00000448083:H825Y;ENSP00000438125:H825Y;ENSP00000376350:H685Y	ENSP00000335300:H753Y	H	+	1	0	TPCN1	112215460	0.031000	0.19500	0.183000	0.23137	0.053000	0.15095	0.592000	0.23984	0.334000	0.23590	-1.394000	0.01149	CAT	TPCN1	-	NULL	ENSG00000186815		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	83	0.00	0	C	NM_017901		113731077	113731077	+1	no_errors	ENST00000541517	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	0.026	T
TRAF3IP3	80342	genome.wustl.edu	37	1	209933475	209933475	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:209933475G>A	ENST00000367024.1	+	3	607	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E31K|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E31K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E31K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E31K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	31						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGAGATCCGTGAAAGCCGCCG	0.632																																						dbGAP											0													32.0	35.0	34.0					1																	209933475		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.91G>A	1.37:g.209933475G>A	ENSP00000355991:p.Glu31Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.E31K	ENST00000367024.1	37	c.91	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663306	0.88251	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.69806	-0.43;-0.18;-0.29;-0.18;-0.29	5.66	4.73	0.59995	.	0.153579	0.41001	D	0.000976	T	0.78991	0.4371	M	0.67953	2.075	0.37319	D	0.909451	D;P;D;P	0.71674	0.996;0.95;0.998;0.95	D;P;D;P	0.80764	0.99;0.613;0.994;0.613	D	0.83463	0.0055	10	0.72032	D	0.01	-10.9032	12.5408	0.56169	0.0:0.1673:0.8327:0.0	.	31;31;31;31	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	K	31	ENSP00000383743:E31K;ENSP00000355992:E31K;ENSP00000355993:E31K;ENSP00000355991:E31K;ENSP00000010338:E31K	ENSP00000010338:E31K	E	+	1	0	TRAF3IP3	208000098	0.998000	0.40836	0.620000	0.29132	0.936000	0.57629	3.427000	0.52785	1.350000	0.45770	0.655000	0.94253	GAA	TRAF3IP3	-	NULL	ENSG00000009790		0.632	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	37	0.00	0	G			209933475	209933475	+1	no_errors	ENST00000367024	ensembl	human	known	69_37n	missense	70	18.60	16	SNP	0.895	A
TRANK1	9881	genome.wustl.edu	37	3	36902452	36902452	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:36902452G>A	ENST00000429976.2	-	10	1555	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	TRANK1_ENST00000428977.2_5'Flank|TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	436							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCAGGTGCTGAGATGGGGGA	0.532																																						dbGAP											0													134.0	125.0	128.0					3																	36902452		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1308C>T	3.37:g.36902452G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L436	ENST00000429976.2	37	c.1308	CCDS46789.2	3																																																																																			TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168016		0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		223	0.00	0	G	NM_014831		36902452	36902452	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	silent	180	36.84	105	SNP	0.801	A
TRANK1	9881	genome.wustl.edu	37	3	36902596	36902596	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:36902596G>C	ENST00000429976.2	-	10	1411	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	TRANK1_ENST00000428977.2_5'Flank|TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	388							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATAAGAATTTGAAGACGGTGG	0.428																																						dbGAP											0													97.0	90.0	92.0					3																	36902596		692	1591	2283	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1164C>G	3.37:g.36902596G>C	ENSP00000416168:p.Phe388Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.F388L	ENST00000429976.2	37	c.1164	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116216	0.20795	.	.	ENSG00000168016	ENST00000429976	T	0.17854	2.25	5.35	2.55	0.30701	.	.	.	.	.	T	0.08891	0.0220	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.28490	-1.0042	7	0.44086	T	0.13	.	3.7661	0.08623	0.1501:0.131:0.5838:0.135	.	.	.	.	L	388	ENSP00000416168:F388L	ENSP00000416168:F388L	F	-	3	2	TRANK1	36877600	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	0.675000	0.25232	0.333000	0.23563	-0.145000	0.13849	TTC	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000168016		0.428	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		165	0.00	0	G	NM_014831		36902596	36902596	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	174	27.50	66	SNP	1.000	C
TRIM25	7706	genome.wustl.edu	37	17	54990828	54990828	+	Silent	SNP	G	G	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr17:54990828G>A	ENST00000316881.4	-	1	571	c.522C>T	c.(520-522)tgC>tgT	p.C174C	TRIM25_ENST00000537230.1_Silent_p.C174C	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	174					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TGTGGCAGATGCACTCGCTGT	0.652																																						dbGAP											0													35.0	36.0	35.0					17																	54990828		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.522C>T	17.37:g.54990828G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.C174	ENST00000316881.4	37	c.522	CCDS11591.1	17																																																																																			TRIM25	-	NULL	ENSG00000121060		0.652	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1	18	0.00	0	G	NM_005082		54990828	54990828	-1	no_errors	ENST00000316881	ensembl	human	known	69_37n	silent	22	58.49	31	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179560781	179560781	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr2:179560781C>G	ENST00000591111.1	-	112	30291	c.30067G>C	c.(30067-30069)Gaa>Caa	p.E10023Q	TTN_ENST00000589042.1_Missense_Mutation_p.E10340Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9096Q|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			tcatctggttcttcATAATAA	0.383																																						dbGAP											0													147.0	126.0	132.0					2																	179560781		1629	3522	5151	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30067G>C	2.37:g.179560781C>G	ENSP00000465570:p.Glu10023Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E9096Q	ENST00000591111.1	37	c.27286		2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331405	0.60853	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.69561	-0.41	5.78	5.78	0.91487	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.79730	0.4496	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.981;0.996	D;D	0.78314	0.954;0.991	T	0.80874	-0.1187	9	0.87932	D	0	.	15.5205	0.75862	0.0:1.0:0.0:0.0	.	10023;10023	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	Q	9096;218	ENSP00000343764:E9096Q	ENSP00000343764:E9096Q	E	-	1	0	TTN	179269026	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.839000	0.55835	2.729000	0.93468	0.650000	0.86243	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	494	0.00	0	C	NM_133378		179560781	179560781	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	330	31.39	151	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179584560	179584560	+	Splice_Site	SNP	C	C	G			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr2:179584560C>G	ENST00000591111.1	-	80	22933		c.e80-1		TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGCTGGTTCTAAAAGAAGA	0.383																																						dbGAP											0													74.0	65.0	68.0					2																	179584560		1849	4094	5943	-	-	-	SO:0001630	splice_region_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22709-1G>C	2.37:g.179584560C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	-	e78-1	ENST00000591111.1	37	c.19928-1		2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031010	0.75504	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179292805	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	.	TTN	-	-	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	185	0.00	0	C	NM_133378	Intron	179584560	179584560	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	splice_site	146	33.03	72	SNP	1.000	G
UBE4B	10277	genome.wustl.edu	37	1	10177641	10177642	+	Frame_Shift_Ins	INS	-	-	A	rs143511579		TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr1:10177641_10177642insA	ENST00000253251.8	+	7	1773_1774	c.934_935insA	c.(934-936)gaafs	p.E312fs	UBE4B_ENST00000343090.6_Frame_Shift_Ins_p.E441fs|UBE4B_ENST00000377157.3_Frame_Shift_Ins_p.E196fs|UBE4B_ENST00000475795.1_3'UTR					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGGAATAGAGGAAAAAAAAGCA	0.366																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.942dupA	1.37:g.10177649_10177649dupA	ENSP00000253251:p.Glu312fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.A444fs	ENST00000253251.8	37	c.1321_1322	CCDS110.1	1																																																																																			UBE4B	-	NULL	ENSG00000130939		0.366	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	56	0.00	0	-	NM_006048		10177641	10177642	+1	no_errors	ENST00000343090	ensembl	human	known	69_37n	frame_shift_ins	42	26.32	15	INS	1.000:1.000	A
UMPS	7372	genome.wustl.edu	37	3	124456998	124456998	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr3:124456998G>C	ENST00000232607.2	+	3	1000	c.894G>C	c.(892-894)ttG>ttC	p.L298F	UMPS_ENST00000413078.2_Missense_Mutation_p.L120F|UMPS_ENST00000536109.1_Missense_Mutation_p.L206F|UMPS_ENST00000538242.1_Missense_Mutation_p.L120F|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	298	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	TGAAGGAGTTGATAACTCTGG	0.383																																						dbGAP											0													93.0	95.0	95.0					3																	124456998		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.894G>C	3.37:g.124456998G>C	ENSP00000232607:p.Leu298Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	pfam_OMPdeCOase_dom,pfam_PRibTrfase,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_clade-1	p.L298F	ENST00000232607.2	37	c.894	CCDS3029.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963896	0.74131	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.43	5.33	4.38	0.52667	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.156561	0.44285	D	0.000478	D	0.86628	0.5978	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.989	D;D;D	0.79784	0.993;0.965;0.933	D	0.87031	0.2135	10	0.72032	D	0.01	-10.449	7.2622	0.26209	0.141:0.0:0.859:0.0	.	120;120;298	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	F	298;206;120;120	ENSP00000232607:L298F;ENSP00000443577:L206F;ENSP00000444988:L120F;ENSP00000397965:L120F	ENSP00000232607:L298F	L	+	3	2	UMPS	125939688	0.991000	0.36638	0.961000	0.40146	0.823000	0.46562	2.282000	0.43461	1.307000	0.44944	0.655000	0.94253	TTG	UMPS	-	pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase	ENSG00000114491		0.383	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	HGNC	protein_coding	OTTHUMT00000355271.1	138	0.00	0	G	NM_000373		124456998	124456998	+1	no_errors	ENST00000232607	ensembl	human	known	69_37n	missense	106	26.39	38	SNP	1.000	C
WDR33	55339	genome.wustl.edu	37	2	128476996	128476996	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr2:128476996G>C	ENST00000322313.4	-	16	2761	c.2603C>G	c.(2602-2604)tCt>tGt	p.S868C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	868					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGGTCCTAAAGAGCCCTGGGG	0.642																																						dbGAP											0													50.0	57.0	54.0					2																	128476996		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2603C>G	2.37:g.128476996G>C	ENSP00000325377:p.Ser868Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S868C	ENST00000322313.4	37	c.2603	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508638	0.27036	.	.	ENSG00000136709	ENST00000322313	D	0.89617	-2.54	5.25	5.25	0.73442	.	0.090226	0.56097	D	0.000037	T	0.78786	0.4338	N	0.14661	0.345	0.80722	D	1	P	0.47034	0.889	B	0.37550	0.253	T	0.82350	-0.0501	10	0.56958	D	0.05	-14.172	13.2578	0.60089	0.0:0.0:0.8418:0.1582	.	868	Q9C0J8	WDR33_HUMAN	C	868	ENSP00000325377:S868C	ENSP00000325377:S868C	S	-	2	0	WDR33	128193466	0.965000	0.33210	0.998000	0.56505	0.952000	0.60782	1.735000	0.38176	2.596000	0.87737	0.563000	0.77884	TCT	WDR33	-	NULL	ENSG00000136709		0.642	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	63	0.00	0	G	NM_018383		128476996	128476996	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	0.939	C
ZNF567	163081	genome.wustl.edu	37	19	37211247	37211247	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0SY-01A-31D-A099-09	TCGA-A2-A0SY-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	efaa9c0b-c14b-4141-b48c-cc2c6b89ab73	95699bf2-296b-4b90-8328-3e423c69e282	g.chr19:37211247T>A	ENST00000536254.2	+	6	1843	c.1621T>A	c.(1621-1623)Tcc>Acc	p.S541T	ZNF567_ENST00000360729.4_Missense_Mutation_p.S510T|ZNF567_ENST00000588311.1_Missense_Mutation_p.S510T|ZNF567_ENST00000585696.1_Missense_Mutation_p.S510T|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.S510T			Q8N184	ZN567_HUMAN	zinc finger protein 567	541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGTGGGAAGTCCTTTCGCCA	0.408																																						dbGAP											0													61.0	62.0	62.0					19																	37211247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1621T>A	19.37:g.37211247T>A	ENSP00000441838:p.Ser541Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX49|Q6N044	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S541T	ENST00000536254.2	37	c.1621		19	.	.	.	.	.	.	.	.	.	.	T	0.451	-0.893692	0.02491	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.35973	1.28;1.28;1.28	4.84	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000646	T	0.17195	0.0413	N	0.13235	0.315	0.80722	D	1	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.002	T	0.06338	-1.0832	10	0.23891	T	0.37	.	6.5252	0.22297	0.1463:0.0:0.4623:0.3914	.	541;510	Q8N184;F8WEL6	ZN567_HUMAN;.	T	541;485;510;540;510	ENSP00000441838:S541T;ENSP00000353957:S510T;ENSP00000376003:S510T	ENSP00000353957:S510T	S	+	1	0	ZNF567	41903087	0.000000	0.05858	1.000000	0.80357	0.888000	0.51559	-0.384000	0.07389	0.394000	0.25230	0.459000	0.35465	TCC	ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189042		0.408	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	77	0.00	0	T	NM_152603		37211247	37211247	+1	no_errors	ENST00000536254	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	1.000	A
